Mutagenetix > Incidental Mutation

Incidental Mutation 'R0197:Espnl'

23477

Institutional Source

Beutler Lab

Gene Symbol

Espnl

Ensembl Gene

ENSMUSG00000049515

Gene Name

espin-like

Synonyms

LOC227357

MMRRC Submission

038456-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0197 (G1)

Quality Score

167

Status

Validated

Chromosome

Chromosomal Location

91249797-91276028 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91272211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 524 (Y524D)

Ref Sequence

ENSEMBL: ENSMUSP00000086294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088904] [ENSMUST00000176156]

AlphaFold

Q3UYR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000088904
AA Change: Y524D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086294
Gene: ENSMUSG00000049515
AA Change: Y524D

Domain	Start	End	E-Value	Type
Blast:ANK	1	33	4e-7	BLAST
ANK	35	64	5.21e1	SMART
ANK	69	102	2.88e2	SMART
ANK	103	132	3.85e-2	SMART
ANK	136	166	7.08e-1	SMART
ANK	170	200	1.02e-1	SMART
ANK	204	232	3.04e0	SMART
ANK	238	267	5.01e-1	SMART
ANK	270	299	1.96e-3	SMART
ANK	303	332	3.21e1	SMART
low complexity region	336	345	N/A	INTRINSIC
coiled coil region	509	538	N/A	INTRINSIC
low complexity region	820	833	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000176156
AA Change: Y480D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135828
Gene: ENSMUSG00000049515
AA Change: Y480D

Domain	Start	End	E-Value	Type
Blast:ANK	1	33	5e-7	BLAST
ANK	35	64	5.21e1	SMART
ANK	69	102	2.88e2	SMART
ANK	103	132	3.85e-2	SMART
ANK	136	166	7.08e-1	SMART
ANK	170	200	1.02e-1	SMART
ANK	204	232	3.04e0	SMART
ANK	238	267	5.01e-1	SMART
low complexity region	292	301	N/A	INTRINSIC
coiled coil region	465	494	N/A	INTRINSIC
low complexity region	776	789	N/A	INTRINSIC

Meta Mutation Damage Score

0.4047

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.5%
20x: 75.9%

Validation Efficiency

97% (121/125)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,632 (GRCm39)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,796,687 (GRCm39)	*118W	probably null	Het
Abcc2	A	T	19: 43,815,053 (GRCm39)	R1147*	probably null	Het
Acsbg3	A	T	17: 57,190,835 (GRCm39)	N468Y	probably benign	Het
Agap2	A	G	10: 126,927,571 (GRCm39)	T1131A	possibly damaging	Het
Aldh9a1	A	G	1: 167,189,416 (GRCm39)	D388G	probably damaging	Het
Ap3d1	G	T	10: 80,565,876 (GRCm39)	A97E	probably damaging	Het
Arhgef10	T	A	8: 15,012,636 (GRCm39)	V320E	probably damaging	Het
Baiap2l1	C	A	5: 144,202,820 (GRCm39)	V498L	probably damaging	Het
Bltp2	A	C	11: 78,160,530 (GRCm39)		probably benign	Het
Cdh2	T	C	18: 16,762,633 (GRCm39)	N437S	probably benign	Het
Cert1	T	A	13: 96,685,795 (GRCm39)	Y63N	probably benign	Het
Cfap119	T	C	7: 127,184,034 (GRCm39)	E261G	probably damaging	Het
Cfap20dc	C	T	14: 8,518,695 (GRCm38)	G254R	probably damaging	Het
Chd1	C	A	17: 15,945,693 (GRCm39)	N72K	probably benign	Het
Cstf2t	A	T	19: 31,062,026 (GRCm39)	M521L	probably benign	Het
Dlx5	T	C	6: 6,881,619 (GRCm39)	K90E	possibly damaging	Het
Dmp1	A	G	5: 104,355,496 (GRCm39)	E32G	possibly damaging	Het
Fam20c	T	C	5: 138,741,479 (GRCm39)	L30P	probably damaging	Het
Fat1	G	T	8: 45,479,590 (GRCm39)	A2879S	probably benign	Het
Gabrg1	A	T	5: 70,931,732 (GRCm39)	V337D	probably damaging	Het
Gart	C	A	16: 91,420,291 (GRCm39)	D851Y	possibly damaging	Het
Gcc1	T	C	6: 28,420,615 (GRCm39)	H234R	probably damaging	Het
Gemin6	T	A	17: 80,535,524 (GRCm39)	H161Q	probably damaging	Het
Glt6d1	A	G	2: 25,684,082 (GRCm39)	I308T	probably benign	Het
Gm10320	T	C	13: 98,628,491 (GRCm39)	T7A	probably benign	Het
Gm10912	T	C	2: 103,896,875 (GRCm39)	S5P	probably benign	Het
Gmpr2	T	A	14: 55,910,192 (GRCm39)	D7E	possibly damaging	Het
Hc	A	G	2: 34,874,762 (GRCm39)	Y1620H	probably damaging	Het
Hoxa3	T	C	6: 52,147,123 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,309,907 (GRCm39)	T1105A	probably benign	Het
Kdr	G	T	5: 76,129,082 (GRCm39)	T188N	possibly damaging	Het
Lepr	A	T	4: 101,609,349 (GRCm39)	D312V	possibly damaging	Het
Mcm3	A	G	1: 20,880,329 (GRCm39)	V501A	probably damaging	Het
Mcur1	T	C	13: 43,699,216 (GRCm39)	Y267C	probably damaging	Het
Med13	T	A	11: 86,197,864 (GRCm39)	T736S	probably benign	Het
Med13l	T	C	5: 118,809,067 (GRCm39)		probably benign	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Ndrg2	T	A	14: 52,144,460 (GRCm39)		probably benign	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Onecut2	T	A	18: 64,474,543 (GRCm39)	S365T	possibly damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Or4c10	A	G	2: 89,760,545 (GRCm39)	T131A	probably benign	Het
Or4k48	C	T	2: 111,476,136 (GRCm39)	V69I	probably benign	Het
Or51e1	T	A	7: 102,359,202 (GRCm39)	H245Q	probably damaging	Het
Pds5b	C	A	5: 150,677,896 (GRCm39)	Q505K	probably benign	Het
Pramel22	C	T	4: 143,383,010 (GRCm39)	E70K	possibly damaging	Het
Rfx2	T	C	17: 57,110,722 (GRCm39)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,346,541 (GRCm39)	V214A	probably benign	Het
Samd3	T	A	10: 26,147,752 (GRCm39)	C476S	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Shank1	C	T	7: 44,001,718 (GRCm39)	R1146W	unknown	Het
Smcr8	T	C	11: 60,668,941 (GRCm39)	Y30H	probably damaging	Het
Smpd4	T	A	16: 17,459,461 (GRCm39)		probably null	Het
Strip1	C	A	3: 107,521,929 (GRCm39)	D750Y	probably damaging	Het
Svep1	T	C	4: 58,070,851 (GRCm39)	K2312E	possibly damaging	Het
Taf1c	A	T	8: 120,326,722 (GRCm39)	I438N	probably damaging	Het
Tnfaip1	A	T	11: 78,420,840 (GRCm39)		probably benign	Het
Unc45b	T	A	11: 82,831,031 (GRCm39)	L797Q	possibly damaging	Het
Usp24	T	A	4: 106,264,330 (GRCm39)	W1754R	probably damaging	Het
Utp20	G	A	10: 88,613,378 (GRCm39)	P1301L	probably benign	Het
Vmn2r115	T	A	17: 23,578,755 (GRCm39)	S743T	probably damaging	Het
Vps41	T	G	13: 19,038,833 (GRCm39)		probably null	Het
Vps72	G	T	3: 95,029,894 (GRCm39)	L304F	probably damaging	Het
Wiz	A	T	17: 32,575,415 (GRCm39)	I907N	probably damaging	Het
Zfp521	T	C	18: 13,978,119 (GRCm39)	T765A	probably benign	Het
Zfp616	A	T	11: 73,976,500 (GRCm39)	H923L	probably damaging	Het
Zp2	A	T	7: 119,742,799 (GRCm39)		probably benign	Het

Other mutations in Espnl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Espnl	APN	1	91,268,333 (GRCm39)	nonsense	probably null
IGL01726:Espnl	APN	1	91,272,626 (GRCm39)	missense	probably benign
IGL02402:Espnl	APN	1	91,272,535 (GRCm39)	missense	probably benign	0.13
IGL02472:Espnl	APN	1	91,268,256 (GRCm39)	missense	probably benign	0.02
IGL02986:Espnl	APN	1	91,272,572 (GRCm39)	missense	probably benign	0.01
IGL03037:Espnl	APN	1	91,269,643 (GRCm39)	missense	probably benign	0.01
IGL03073:Espnl	APN	1	91,272,278 (GRCm39)	missense	probably damaging	0.99
R0111:Espnl	UTSW	1	91,272,464 (GRCm39)	missense	probably benign	0.29
R0238:Espnl	UTSW	1	91,250,009 (GRCm39)	missense	probably damaging	0.97
R0239:Espnl	UTSW	1	91,250,009 (GRCm39)	missense	probably damaging	0.97
R0239:Espnl	UTSW	1	91,250,009 (GRCm39)	missense	probably damaging	0.97
R0665:Espnl	UTSW	1	91,262,409 (GRCm39)	splice site	probably null
R1772:Espnl	UTSW	1	91,272,325 (GRCm39)	missense	possibly damaging	0.61
R3804:Espnl	UTSW	1	91,249,943 (GRCm39)	missense	probably benign	0.00
R4352:Espnl	UTSW	1	91,262,443 (GRCm39)	missense	probably damaging	1.00
R4566:Espnl	UTSW	1	91,272,301 (GRCm39)	missense	possibly damaging	0.46
R4790:Espnl	UTSW	1	91,272,146 (GRCm39)	missense	probably damaging	1.00
R5234:Espnl	UTSW	1	91,272,515 (GRCm39)	missense	probably benign	0.02
R6430:Espnl	UTSW	1	91,249,970 (GRCm39)	missense	possibly damaging	0.75
R6652:Espnl	UTSW	1	91,272,421 (GRCm39)	missense	probably benign	0.13
R6785:Espnl	UTSW	1	91,249,943 (GRCm39)	missense	probably benign	0.00
R6800:Espnl	UTSW	1	91,270,351 (GRCm39)	missense	probably damaging	0.98
R7082:Espnl	UTSW	1	91,262,521 (GRCm39)	missense	probably benign	0.00
R7311:Espnl	UTSW	1	91,251,290 (GRCm39)	missense	probably damaging	0.98
R7376:Espnl	UTSW	1	91,250,036 (GRCm39)	missense	probably damaging	1.00
R7880:Espnl	UTSW	1	91,272,488 (GRCm39)	missense	possibly damaging	0.81
R8154:Espnl	UTSW	1	91,252,921 (GRCm39)	missense	possibly damaging	0.87
R8739:Espnl	UTSW	1	91,272,317 (GRCm39)	missense	probably damaging	0.96
R9266:Espnl	UTSW	1	91,272,771 (GRCm39)	missense	probably benign	0.40
R9354:Espnl	UTSW	1	91,272,323 (GRCm39)	missense	probably benign	0.00
R9428:Espnl	UTSW	1	91,273,595 (GRCm39)	missense	probably damaging	1.00
R9798:Espnl	UTSW	1	91,251,286 (GRCm39)	missense	probably damaging	1.00
Z1177:Espnl	UTSW	1	91,251,277 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAGGCTTTAGGGAACCAGGCAG -3'
(R):5'- TTCATACCCTTCAGCAGCAGGGAC -3'

Sequencing Primer
(F):5'- TGTCCAGGACCAGAGTCAG -3'
(R):5'- TGGCTGCACCAGAAGGG -3'

Posted On

2013-04-16