Mutagenetix > Incidental Mutation

Incidental Mutation 'R3500:Sdk1'

273754

Institutional Source

Beutler Lab

Gene Symbol

Sdk1

Ensembl Gene

ENSMUSG00000039683

Gene Name

sidekick cell adhesion molecule 1

Synonyms

6720466O15Rik

MMRRC Submission

040663-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R3500 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141227245-142201341 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 141992371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082928 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074546] [ENSMUST00000085774]

AlphaFold

Q3UH53

Predicted Effect

probably benign
Transcript: ENSMUST00000074546

SMART Domains

Protein: ENSMUSP00000074133
Gene: ENSMUSG00000039683

Domain	Start	End	E-Value	Type
IGc2	28	91	4.67e-4	SMART
IGc2	121	187	1.45e-9	SMART
IGc2	214	282	1.58e-10	SMART
IG	302	387	1.8e-5	SMART
FN3	390	474	7.39e-14	SMART
FN3	490	576	8.96e-13	SMART
FN3	591	679	1.95e-4	SMART
FN3	694	776	2e-10	SMART
FN3	792	879	4.22e-9	SMART
FN3	896	983	1.41e-10	SMART
FN3	999	1084	2.7e-7	SMART
FN3	1100	1183	1.3e-9	SMART
FN3	1199	1284	2.19e-7	SMART
FN3	1300	1408	5.73e-11	SMART
FN3	1424	1509	1.79e-12	SMART
FN3	1524	1611	1.16e-11	SMART
FN3	1625	1709	1.32e-10	SMART
transmembrane domain	1730	1752	N/A	INTRINSIC
low complexity region	1806	1815	N/A	INTRINSIC
low complexity region	1846	1858	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085774

SMART Domains

Protein: ENSMUSP00000082928
Gene: ENSMUSG00000039683

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
low complexity region	67	80	N/A	INTRINSIC
IGc2	99	158	2.77e-6	SMART
IG	179	264	3.74e-3	SMART
IGc2	288	351	4.67e-4	SMART
IGc2	381	447	1.45e-9	SMART
IGc2	474	542	1.58e-10	SMART
IG	562	647	1.8e-5	SMART
FN3	650	734	7.39e-14	SMART
FN3	750	836	8.96e-13	SMART
FN3	851	939	1.95e-4	SMART
FN3	954	1036	2e-10	SMART
FN3	1052	1139	4.22e-9	SMART
FN3	1156	1243	1.41e-10	SMART
FN3	1259	1344	2.7e-7	SMART
FN3	1360	1443	1.3e-9	SMART
FN3	1459	1544	2.19e-7	SMART
FN3	1560	1668	5.73e-11	SMART
FN3	1684	1769	1.79e-12	SMART
FN3	1784	1871	1.16e-11	SMART
FN3	1885	1969	1.32e-10	SMART
transmembrane domain	1990	2012	N/A	INTRINSIC
low complexity region	2066	2075	N/A	INTRINSIC
low complexity region	2106	2118	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the immunoglobulin superfamily. The protein contains six immunoglobulin-like domains and thirteen fibronectin type III domains. Fibronectin type III domains are present in both extracellular and intracellular proteins and tandem repeats are known to contain binding sites for DNA, heparin and the cell surface. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amhr2	A	G	15: 102,355,501 (GRCm39)	D188G	probably benign	Het
Arl15	G	A	13: 114,104,228 (GRCm39)	E102K	probably damaging	Het
Atp10d	C	T	5: 72,403,066 (GRCm39)	R319C	probably damaging	Het
Cetn4	A	T	3: 37,364,109 (GRCm39)	F34I	probably benign	Het
Chd8	G	T	14: 52,443,110 (GRCm39)	H510N	probably benign	Het
Chil5	T	C	3: 105,925,536 (GRCm39)	D157G	probably damaging	Het
Clcn1	T	C	6: 42,269,929 (GRCm39)	S251P	probably damaging	Het
Clstn3	A	T	6: 124,408,670 (GRCm39)	C881S	probably benign	Het
Cnot4	G	A	6: 35,057,076 (GRCm39)		probably benign	Het
Copg1	G	A	6: 87,872,905 (GRCm39)		probably benign	Het
Czib	C	T	4: 107,748,710 (GRCm39)	R83W	probably damaging	Het
Eftud2	A	G	11: 102,735,006 (GRCm39)	M631T	probably damaging	Het
Elavl3	A	G	9: 21,930,040 (GRCm39)	V288A	probably damaging	Het
Fancb	A	G	X: 163,779,104 (GRCm39)	T721A	probably damaging	Het
Fat2	A	G	11: 55,151,342 (GRCm39)	F3800S	probably damaging	Het
Fgd2	T	C	17: 29,584,575 (GRCm39)	V173A	possibly damaging	Het
Gabrr1	T	C	4: 33,158,184 (GRCm39)		probably benign	Het
Gata4	C	T	14: 63,437,982 (GRCm39)	G390S	possibly damaging	Het
Gm9396	C	A	3: 129,862,144 (GRCm39)		noncoding transcript	Het
Grid2	T	C	6: 63,480,383 (GRCm39)	S66P	probably damaging	Het
Hdac9	C	A	12: 34,487,352 (GRCm39)	M16I	probably benign	Het
Kmt2c	A	T	5: 25,504,477 (GRCm39)	D3610E	probably benign	Het
Lactb2	A	T	1: 13,730,673 (GRCm39)	M1K	probably null	Het
Ldhb	T	C	6: 142,447,173 (GRCm39)	D47G	probably damaging	Het
Map3k11	A	T	19: 5,740,275 (GRCm39)	M1L	probably benign	Het
Mecom	C	T	3: 30,035,061 (GRCm39)	R205H	probably damaging	Het
Mob1b	A	G	5: 88,897,479 (GRCm39)	D129G	probably benign	Het
Nbea	A	G	3: 55,588,431 (GRCm39)	V2436A	possibly damaging	Het
Neb	T	C	2: 52,215,797 (GRCm39)	N170S	probably damaging	Het
Nedd4l	G	A	18: 65,345,931 (GRCm39)	A848T	probably damaging	Het
Nr5a1	G	A	2: 38,597,952 (GRCm39)	R282*	probably null	Het
Or4c102	A	G	2: 88,422,285 (GRCm39)	T46A	probably damaging	Het
Or4c119	C	T	2: 88,987,403 (GRCm39)	G39R	probably damaging	Het
Or4d10c	A	G	19: 12,065,421 (GRCm39)	V245A	possibly damaging	Het
Or4f47	T	C	2: 111,972,472 (GRCm39)	F61L	possibly damaging	Het
Or52e2	T	C	7: 102,804,297 (GRCm39)	Y219C	probably damaging	Het
Pcdhb19	T	A	18: 37,630,532 (GRCm39)	L109*	probably null	Het
Plcg2	A	G	8: 118,339,717 (GRCm39)	M1043V	probably benign	Het
Podxl2	T	C	6: 88,819,900 (GRCm39)	D554G	probably damaging	Het
Ppp3ca	A	G	3: 136,587,273 (GRCm39)	T252A	probably benign	Het
Pramel6	A	G	2: 87,339,569 (GRCm39)	H111R	probably damaging	Het
Prr19	A	G	7: 25,002,692 (GRCm39)	E130G	probably damaging	Het
Rab44	C	T	17: 29,357,041 (GRCm39)	A57V	probably benign	Het
Rhbdl3	T	C	11: 80,210,531 (GRCm39)	F95L	probably damaging	Het
Tas2r122	T	A	6: 132,688,523 (GRCm39)	K123N	probably damaging	Het
Tbpl2	C	T	2: 23,977,151 (GRCm39)	R289Q	probably benign	Het
Trpm2	A	G	10: 77,768,136 (GRCm39)	F788L	probably benign	Het
Ttn	G	A	2: 76,560,628 (GRCm39)	L29258F	probably damaging	Het
Ttn	G	T	2: 76,591,509 (GRCm39)	F19307L	possibly damaging	Het
Vmn2r23	T	C	6: 123,690,129 (GRCm39)	I335T	possibly damaging	Het

Other mutations in Sdk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Sdk1	APN	5	142,071,361 (GRCm39)	missense	probably damaging	1.00
IGL00945:Sdk1	APN	5	142,070,368 (GRCm39)	critical splice donor site	probably null
IGL00946:Sdk1	APN	5	142,070,368 (GRCm39)	critical splice donor site	probably null
IGL01394:Sdk1	APN	5	141,598,970 (GRCm39)	missense	probably benign	0.03
IGL01398:Sdk1	APN	5	141,923,332 (GRCm39)	missense	probably benign	0.00
IGL01410:Sdk1	APN	5	142,197,875 (GRCm39)	missense	probably benign	0.30
IGL01525:Sdk1	APN	5	141,985,675 (GRCm39)	missense	probably damaging	1.00
IGL01548:Sdk1	APN	5	142,071,520 (GRCm39)	missense	possibly damaging	0.95
IGL01672:Sdk1	APN	5	142,170,930 (GRCm39)	missense	probably benign	0.33
IGL01676:Sdk1	APN	5	142,113,591 (GRCm39)	missense	probably damaging	0.99
IGL01679:Sdk1	APN	5	142,031,919 (GRCm39)	missense	probably benign
IGL01929:Sdk1	APN	5	141,938,785 (GRCm39)	missense	probably damaging	0.99
IGL01970:Sdk1	APN	5	142,071,437 (GRCm39)	missense	possibly damaging	0.67
IGL02016:Sdk1	APN	5	142,020,184 (GRCm39)	missense	possibly damaging	0.85
IGL02060:Sdk1	APN	5	141,938,767 (GRCm39)	missense	possibly damaging	0.79
IGL02457:Sdk1	APN	5	141,938,771 (GRCm39)	missense	probably damaging	1.00
IGL02634:Sdk1	APN	5	141,595,787 (GRCm39)	missense	probably benign	0.01
IGL02637:Sdk1	APN	5	142,080,327 (GRCm39)	missense	probably damaging	1.00
IGL02731:Sdk1	APN	5	142,158,299 (GRCm39)	missense	probably damaging	1.00
IGL03180:Sdk1	APN	5	142,071,497 (GRCm39)	missense	probably damaging	0.96
IGL03259:Sdk1	APN	5	141,938,788 (GRCm39)	nonsense	probably null
PIT4453001:Sdk1	UTSW	5	142,197,793 (GRCm39)	missense	probably benign	0.00
PIT4544001:Sdk1	UTSW	5	141,941,987 (GRCm39)	missense	probably benign	0.08
R0149:Sdk1	UTSW	5	141,842,809 (GRCm39)	intron	probably benign
R0173:Sdk1	UTSW	5	142,159,564 (GRCm39)	splice site	probably benign
R0240:Sdk1	UTSW	5	141,984,502 (GRCm39)	missense	probably damaging	1.00
R0240:Sdk1	UTSW	5	141,984,502 (GRCm39)	missense	probably damaging	1.00
R0242:Sdk1	UTSW	5	142,129,677 (GRCm39)	splice site	probably benign
R0245:Sdk1	UTSW	5	141,940,713 (GRCm39)	missense	probably benign	0.02
R0270:Sdk1	UTSW	5	142,070,321 (GRCm39)	missense	possibly damaging	0.79
R0398:Sdk1	UTSW	5	141,948,476 (GRCm39)	missense	probably benign	0.05
R0401:Sdk1	UTSW	5	142,031,916 (GRCm39)	missense	possibly damaging	0.55
R0501:Sdk1	UTSW	5	141,923,473 (GRCm39)	missense	probably benign
R0558:Sdk1	UTSW	5	142,117,820 (GRCm39)	missense	probably damaging	1.00
R0652:Sdk1	UTSW	5	141,940,713 (GRCm39)	missense	probably benign	0.02
R0834:Sdk1	UTSW	5	141,227,779 (GRCm39)	missense	probably benign
R0962:Sdk1	UTSW	5	142,147,630 (GRCm39)	missense	probably damaging	1.00
R1424:Sdk1	UTSW	5	142,147,621 (GRCm39)	missense	probably damaging	1.00
R1438:Sdk1	UTSW	5	142,024,078 (GRCm39)	missense	probably damaging	0.96
R1517:Sdk1	UTSW	5	142,113,591 (GRCm39)	missense	probably damaging	0.99
R1519:Sdk1	UTSW	5	141,985,705 (GRCm39)	missense	probably benign	0.00
R1539:Sdk1	UTSW	5	142,080,354 (GRCm39)	missense	probably damaging	1.00
R1574:Sdk1	UTSW	5	141,984,634 (GRCm39)	missense	probably benign	0.03
R1574:Sdk1	UTSW	5	141,984,634 (GRCm39)	missense	probably benign	0.03
R1673:Sdk1	UTSW	5	141,934,261 (GRCm39)	missense	possibly damaging	0.90
R1686:Sdk1	UTSW	5	142,020,292 (GRCm39)	missense	probably benign	0.00
R1806:Sdk1	UTSW	5	142,147,681 (GRCm39)	missense	probably benign
R1806:Sdk1	UTSW	5	141,598,950 (GRCm39)	missense	probably damaging	1.00
R1925:Sdk1	UTSW	5	142,171,040 (GRCm39)	missense	probably benign	0.09
R1956:Sdk1	UTSW	5	142,080,336 (GRCm39)	missense	probably damaging	1.00
R1976:Sdk1	UTSW	5	142,129,573 (GRCm39)	missense	probably damaging	1.00
R2124:Sdk1	UTSW	5	142,170,943 (GRCm39)	missense	possibly damaging	0.70
R2152:Sdk1	UTSW	5	141,778,699 (GRCm39)	missense	probably damaging	1.00
R2186:Sdk1	UTSW	5	142,032,047 (GRCm39)	missense	probably benign	0.00
R2187:Sdk1	UTSW	5	142,100,329 (GRCm39)	missense	probably damaging	1.00
R2306:Sdk1	UTSW	5	141,948,455 (GRCm39)	missense	probably benign	0.00
R2520:Sdk1	UTSW	5	142,071,526 (GRCm39)	missense	probably benign	0.19
R2698:Sdk1	UTSW	5	142,197,805 (GRCm39)	missense	possibly damaging	0.95
R2763:Sdk1	UTSW	5	142,070,306 (GRCm39)	missense	possibly damaging	0.90
R3023:Sdk1	UTSW	5	142,031,991 (GRCm39)	missense	probably benign
R3613:Sdk1	UTSW	5	142,105,441 (GRCm39)	missense	probably damaging	1.00
R3824:Sdk1	UTSW	5	141,921,804 (GRCm39)	missense	probably benign
R3916:Sdk1	UTSW	5	142,036,999 (GRCm39)	missense	probably damaging	0.98
R3917:Sdk1	UTSW	5	142,036,999 (GRCm39)	missense	probably damaging	0.98
R4158:Sdk1	UTSW	5	142,100,154 (GRCm39)	missense	probably benign	0.00
R4160:Sdk1	UTSW	5	142,100,154 (GRCm39)	missense	probably benign	0.00
R4161:Sdk1	UTSW	5	142,100,154 (GRCm39)	missense	probably benign	0.00
R4386:Sdk1	UTSW	5	142,080,381 (GRCm39)	missense	probably damaging	0.99
R4649:Sdk1	UTSW	5	141,992,380 (GRCm39)	missense	probably damaging	1.00
R4701:Sdk1	UTSW	5	142,170,986 (GRCm39)	missense	probably damaging	1.00
R4780:Sdk1	UTSW	5	141,944,993 (GRCm39)	missense	probably damaging	0.97
R4787:Sdk1	UTSW	5	141,568,168 (GRCm39)	missense	probably benign
R4825:Sdk1	UTSW	5	141,568,049 (GRCm39)	missense	probably benign	0.11
R4853:Sdk1	UTSW	5	142,132,018 (GRCm39)	missense	probably damaging	1.00
R4857:Sdk1	UTSW	5	142,147,531 (GRCm39)	missense	probably benign	0.01
R4928:Sdk1	UTSW	5	141,842,758 (GRCm39)	intron	probably benign
R5111:Sdk1	UTSW	5	142,113,600 (GRCm39)	missense	probably damaging	1.00
R5188:Sdk1	UTSW	5	141,942,015 (GRCm39)	critical splice donor site	probably null
R5246:Sdk1	UTSW	5	142,100,317 (GRCm39)	missense	possibly damaging	0.72
R5273:Sdk1	UTSW	5	141,984,583 (GRCm39)	missense	probably damaging	0.99
R5484:Sdk1	UTSW	5	142,085,941 (GRCm39)	missense	probably damaging	1.00
R5525:Sdk1	UTSW	5	142,171,020 (GRCm39)	missense	possibly damaging	0.84
R5578:Sdk1	UTSW	5	141,598,880 (GRCm39)	nonsense	probably null
R5593:Sdk1	UTSW	5	141,941,879 (GRCm39)	missense	probably damaging	0.98
R5654:Sdk1	UTSW	5	141,921,853 (GRCm39)	missense	probably damaging	0.96
R5672:Sdk1	UTSW	5	142,173,900 (GRCm39)	missense	possibly damaging	0.94
R5768:Sdk1	UTSW	5	142,129,626 (GRCm39)	missense	probably benign	0.00
R5781:Sdk1	UTSW	5	141,921,803 (GRCm39)	missense	probably benign	0.00
R5846:Sdk1	UTSW	5	142,100,148 (GRCm39)	missense	probably damaging	1.00
R5851:Sdk1	UTSW	5	141,948,424 (GRCm39)	missense	probably benign	0.00
R6164:Sdk1	UTSW	5	142,117,824 (GRCm39)	missense	probably damaging	1.00
R6235:Sdk1	UTSW	5	142,020,181 (GRCm39)	missense	possibly damaging	0.85
R6364:Sdk1	UTSW	5	141,948,464 (GRCm39)	missense	probably benign	0.00
R6453:Sdk1	UTSW	5	142,082,676 (GRCm39)	missense	probably damaging	1.00
R6892:Sdk1	UTSW	5	142,032,053 (GRCm39)	missense	probably benign	0.00
R6996:Sdk1	UTSW	5	142,197,769 (GRCm39)	missense	probably benign	0.16
R7003:Sdk1	UTSW	5	142,082,489 (GRCm39)	missense	probably benign	0.01
R7022:Sdk1	UTSW	5	142,080,412 (GRCm39)	splice site	probably null
R7027:Sdk1	UTSW	5	142,082,481 (GRCm39)	splice site	probably null
R7098:Sdk1	UTSW	5	142,082,625 (GRCm39)	missense	probably damaging	0.96
R7107:Sdk1	UTSW	5	142,067,471 (GRCm39)	missense	probably damaging	0.99
R7203:Sdk1	UTSW	5	142,031,931 (GRCm39)	missense	probably benign	0.08
R7313:Sdk1	UTSW	5	141,923,377 (GRCm39)	missense	probably damaging	0.97
R7363:Sdk1	UTSW	5	142,173,897 (GRCm39)	missense	probably benign	0.05
R7375:Sdk1	UTSW	5	141,984,598 (GRCm39)	missense	probably benign	0.01
R7446:Sdk1	UTSW	5	142,130,731 (GRCm39)	missense	probably damaging	1.00
R7527:Sdk1	UTSW	5	141,778,731 (GRCm39)	missense	possibly damaging	0.61
R7598:Sdk1	UTSW	5	141,595,753 (GRCm39)	nonsense	probably null
R7747:Sdk1	UTSW	5	142,070,246 (GRCm39)	missense	probably damaging	1.00
R7810:Sdk1	UTSW	5	141,923,434 (GRCm39)	missense	probably benign
R7985:Sdk1	UTSW	5	142,113,602 (GRCm39)	missense	probably damaging	1.00
R8129:Sdk1	UTSW	5	142,177,648 (GRCm39)	missense	probably benign	0.10
R8217:Sdk1	UTSW	5	142,197,713 (GRCm39)	missense	possibly damaging	0.81
R8249:Sdk1	UTSW	5	142,173,770 (GRCm39)	critical splice acceptor site	probably null
R8376:Sdk1	UTSW	5	142,144,376 (GRCm39)	missense	possibly damaging	0.83
R8779:Sdk1	UTSW	5	141,948,457 (GRCm39)	missense	probably benign	0.00
R8807:Sdk1	UTSW	5	142,071,382 (GRCm39)	missense	probably damaging	1.00
R8907:Sdk1	UTSW	5	142,070,278 (GRCm39)	missense	probably damaging	0.99
R8942:Sdk1	UTSW	5	142,082,598 (GRCm39)	missense	probably damaging	1.00
R8945:Sdk1	UTSW	5	141,598,935 (GRCm39)	missense	probably benign
R9006:Sdk1	UTSW	5	141,923,321 (GRCm39)	missense	probably damaging	1.00
R9249:Sdk1	UTSW	5	142,129,550 (GRCm39)	missense	probably damaging	1.00
R9275:Sdk1	UTSW	5	141,941,953 (GRCm39)	missense	possibly damaging	0.95
R9345:Sdk1	UTSW	5	142,147,708 (GRCm39)	missense	probably benign
R9463:Sdk1	UTSW	5	141,948,548 (GRCm39)	missense	probably benign	0.31
R9549:Sdk1	UTSW	5	141,940,657 (GRCm39)	missense	possibly damaging	0.95
R9572:Sdk1	UTSW	5	141,595,784 (GRCm39)	missense	probably damaging	1.00
R9602:Sdk1	UTSW	5	142,071,353 (GRCm39)	missense	probably damaging	0.99
R9703:Sdk1	UTSW	5	142,100,283 (GRCm39)	missense	possibly damaging	0.95
R9720:Sdk1	UTSW	5	142,197,796 (GRCm39)	missense	probably damaging	0.96
R9771:Sdk1	UTSW	5	142,082,624 (GRCm39)	missense	probably damaging	0.99
X0017:Sdk1	UTSW	5	141,984,535 (GRCm39)	missense	probably benign	0.00
Z1176:Sdk1	UTSW	5	141,945,065 (GRCm39)	missense	probably null	0.58
Z1177:Sdk1	UTSW	5	141,948,463 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CAAGTCCACTCTACTTCATCTGGAG -3'
(R):5'- GCAGCTCACCTCCTTGTAAG -3'

Sequencing Primer
(F):5'- CATCTGGAGTTTGCAGTCACCATG -3'
(R):5'- TAAGGTGTACTCGGTCACTGCC -3'

Posted On

2015-04-02