Mutagenetix > Incidental Mutation

Incidental Mutation 'R0041:Rlf'

64702

Institutional Source

Beutler Lab

Gene Symbol

Rlf

Ensembl Gene

ENSMUSG00000049878

Gene Name

rearranged L-myc fusion sequence

Synonyms

9230110M18Rik, MommeD8

MMRRC Submission

038335-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0041 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

121003080-121072318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121007126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 618 (H618L)

Ref Sequence

ENSEMBL: ENSMUSP00000127068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056635] [ENSMUST00000168615]

AlphaFold

A2A7F4

Predicted Effect

probably damaging
Transcript: ENSMUST00000056635
AA Change: H728L

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

SMART Domains

Protein: ENSMUSP00000050825
Gene: ENSMUSG00000049878
AA Change: H728L

Domain	Start	End	E-Value	Type
low complexity region	2	31	N/A	INTRINSIC
low complexity region	129	149	N/A	INTRINSIC
low complexity region	298	309	N/A	INTRINSIC
ZnF_C2H2	554	575	1.27e2	SMART
ZnF_C2H2	581	603	1.08e-1	SMART
ZnF_C2H2	667	692	5.42e-2	SMART
ZnF_C2H2	710	732	8.09e-1	SMART
ZnF_C2H2	738	762	3.99e0	SMART
ZnF_C2H2	767	791	3.16e-3	SMART
ZnF_C2H2	797	821	1.18e-2	SMART
low complexity region	885	909	N/A	INTRINSIC
ZnF_C2H2	949	974	2.57e-3	SMART
low complexity region	1055	1066	N/A	INTRINSIC
ZnF_C2H2	1122	1147	5.9e-3	SMART
ZnF_C2H2	1167	1190	4.17e-3	SMART
low complexity region	1259	1285	N/A	INTRINSIC
ZnF_C2H2	1303	1328	5.06e-2	SMART
ZnF_C2H2	1355	1380	6.57e-1	SMART
ZnF_C2H2	1400	1425	3.83e-2	SMART
ZnF_C2H2	1437	1462	8.81e-2	SMART
low complexity region	1488	1514	N/A	INTRINSIC
low complexity region	1521	1533	N/A	INTRINSIC
ZnF_C2H2	1556	1581	4.81e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168615
AA Change: H618L

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

SMART Domains

Protein: ENSMUSP00000127068
Gene: ENSMUSG00000049878
AA Change: H618L

Domain	Start	End	E-Value	Type
low complexity region	22	39	N/A	INTRINSIC
low complexity region	188	199	N/A	INTRINSIC
ZnF_C2H2	444	465	1.27e2	SMART
ZnF_C2H2	471	493	1.08e-1	SMART
ZnF_C2H2	557	582	5.42e-2	SMART
ZnF_C2H2	600	622	8.09e-1	SMART
ZnF_C2H2	628	652	3.99e0	SMART
ZnF_C2H2	657	681	3.16e-3	SMART
ZnF_C2H2	687	711	1.18e-2	SMART
low complexity region	775	799	N/A	INTRINSIC
ZnF_C2H2	839	864	2.57e-3	SMART
low complexity region	945	956	N/A	INTRINSIC
ZnF_C2H2	1012	1037	5.9e-3	SMART
ZnF_C2H2	1057	1080	4.17e-3	SMART
low complexity region	1149	1175	N/A	INTRINSIC
ZnF_C2H2	1193	1218	5.06e-2	SMART
ZnF_C2H2	1245	1270	6.57e-1	SMART
ZnF_C2H2	1290	1315	3.83e-2	SMART
ZnF_C2H2	1327	1352	8.81e-2	SMART
low complexity region	1378	1404	N/A	INTRINSIC
low complexity region	1411	1423	N/A	INTRINSIC
ZnF_C2H2	1446	1471	4.81e0	SMART

Meta Mutation Damage Score

0.9374

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.3%

Validation Efficiency

97% (58/60)

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic ENU-induced allele exhibit postnatal lethality. Only a few mice survive to weaning age exhibiting a decreased body size. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,873,986 (GRCm39)	R412G	probably damaging	Het
Adamts3	T	A	5: 89,832,326 (GRCm39)	N927Y	probably benign	Het
Adgra3	A	G	5: 50,117,901 (GRCm39)	Y1216H	probably benign	Het
Agpat3	C	A	10: 78,123,881 (GRCm39)		probably benign	Het
AI182371	T	A	2: 34,975,733 (GRCm39)	Q277L	possibly damaging	Het
Arhgef15	A	T	11: 68,845,342 (GRCm39)	L170Q	possibly damaging	Het
Avpi1	C	A	19: 42,112,223 (GRCm39)	E112*	probably null	Het
Braf	C	T	6: 39,617,413 (GRCm39)	A534T	probably damaging	Het
Bspry	G	C	4: 62,404,791 (GRCm39)	A196P	probably damaging	Het
Cacna1c	T	A	6: 118,570,988 (GRCm39)	L2095F	probably damaging	Het
Cdhr2	A	T	13: 54,874,651 (GRCm39)	S908C	probably damaging	Het
Cntnap5c	C	A	17: 58,183,464 (GRCm39)	Q57K	probably benign	Het
Dtna	C	T	18: 23,779,932 (GRCm39)		probably benign	Het
Dynap	A	G	18: 70,375,105 (GRCm39)	S37P	possibly damaging	Het
Efna5	A	T	17: 62,914,467 (GRCm39)		probably benign	Het
Fancm	T	A	12: 65,153,217 (GRCm39)	C1224*	probably null	Het
Fbxw16	T	A	9: 109,277,232 (GRCm39)	S37C	probably damaging	Het
Galnt4	A	G	10: 98,944,374 (GRCm39)	Y33C	probably benign	Het
Kcnk2	G	T	1: 189,027,888 (GRCm39)	N122K	probably benign	Het
Krt71	C	A	15: 101,647,753 (GRCm39)	E222D	probably damaging	Het
Ltf	T	A	9: 110,858,636 (GRCm39)	D461E	possibly damaging	Het
Mapk4	A	T	18: 74,068,109 (GRCm39)	L274Q	probably damaging	Het
Mbd6	A	G	10: 127,122,741 (GRCm39)	C103R	probably damaging	Het
Nbeal1	A	G	1: 60,321,030 (GRCm39)	N2047S	probably benign	Het
Nefh	C	T	11: 4,895,184 (GRCm39)	S335N	possibly damaging	Het
Obscn	G	T	11: 58,934,803 (GRCm39)	H4715N	probably damaging	Het
Olfml1	A	T	7: 107,189,393 (GRCm39)	I153L	possibly damaging	Het
Or6d13	G	A	6: 116,518,295 (GRCm39)	V294I	possibly damaging	Het
Or8g34	T	A	9: 39,372,772 (GRCm39)	F12Y	probably benign	Het
Pck1	A	G	2: 172,997,003 (GRCm39)	E215G	probably benign	Het
Peg12	T	A	7: 62,113,308 (GRCm39)	E263V	unknown	Het
Phkg1	T	A	5: 129,903,103 (GRCm39)	T15S	probably benign	Het
Plekhg1	T	A	10: 3,914,076 (GRCm39)	L1120*	probably null	Het
Prss59	A	T	6: 40,903,042 (GRCm39)	L110*	probably null	Het
Rnf112	T	A	11: 61,343,181 (GRCm39)	R165W	probably damaging	Het
Rnf213	A	G	11: 119,293,401 (GRCm39)	T51A	probably benign	Het
Rnf220	A	G	4: 117,130,481 (GRCm39)	L293P	probably damaging	Het
Rock1	T	C	18: 10,140,240 (GRCm39)	D117G	probably damaging	Het
Rp1	A	G	1: 4,414,851 (GRCm39)	V2087A	probably benign	Het
Rpl7a	A	G	2: 26,801,563 (GRCm39)		probably null	Het
Serpinb6d	A	G	13: 33,851,615 (GRCm39)	D124G	probably damaging	Het
Skor1	T	G	9: 63,053,133 (GRCm39)	T279P	probably damaging	Het
Son	A	T	16: 91,456,221 (GRCm39)	E1656V	probably damaging	Het
Swap70	A	G	7: 109,878,562 (GRCm39)	K511E	probably benign	Het
Treh	T	C	9: 44,594,910 (GRCm39)	V262A	probably benign	Het
Trpm4	A	G	7: 44,954,370 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,708,739 (GRCm39)	I124V	probably benign	Het
Wdr53	T	C	16: 32,075,473 (GRCm39)	V226A	probably damaging	Het
Wdr64	G	A	1: 175,554,037 (GRCm39)	W189*	probably null	Het

Other mutations in Rlf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Rlf	APN	4	121,027,883 (GRCm39)	missense	possibly damaging	0.89
IGL00558:Rlf	APN	4	121,008,170 (GRCm39)	missense	probably damaging	1.00
IGL00990:Rlf	APN	4	121,005,536 (GRCm39)	missense	possibly damaging	0.87
IGL01625:Rlf	APN	4	121,045,457 (GRCm39)	missense	possibly damaging	0.68
IGL01921:Rlf	APN	4	121,003,943 (GRCm39)	missense	probably damaging	1.00
IGL01986:Rlf	APN	4	121,005,303 (GRCm39)	missense	probably damaging	1.00
IGL02232:Rlf	APN	4	121,039,811 (GRCm39)	missense	probably benign	0.21
IGL02586:Rlf	APN	4	121,007,261 (GRCm39)	missense	probably damaging	1.00
IGL03177:Rlf	APN	4	121,005,276 (GRCm39)	nonsense	probably null
IGL03233:Rlf	APN	4	121,039,797 (GRCm39)	splice site	probably benign
IGL03293:Rlf	APN	4	121,005,527 (GRCm39)	missense	probably benign	0.18
Brady	UTSW	4	121,005,750 (GRCm39)	nonsense	probably null
bunch	UTSW	4	121,012,172 (GRCm39)	missense	probably damaging	1.00
Rosary	UTSW	4	121,005,807 (GRCm39)	missense	probably damaging	0.99
transsubstantiation	UTSW	4	121,005,488 (GRCm39)	missense	probably benign	0.10
wafer	UTSW	4	121,007,729 (GRCm39)	missense	probably benign	0.00
Wine	UTSW	4	121,005,369 (GRCm39)	missense	probably damaging	1.00
PIT4651001:Rlf	UTSW	4	121,007,510 (GRCm39)	missense	probably damaging	0.98
R0019:Rlf	UTSW	4	121,003,769 (GRCm39)	missense	possibly damaging	0.46
R0019:Rlf	UTSW	4	121,003,769 (GRCm39)	missense	possibly damaging	0.46
R0039:Rlf	UTSW	4	121,004,039 (GRCm39)	missense	possibly damaging	0.90
R0041:Rlf	UTSW	4	121,007,126 (GRCm39)	missense	probably damaging	1.00
R0590:Rlf	UTSW	4	121,028,030 (GRCm39)	splice site	probably benign
R1562:Rlf	UTSW	4	121,007,588 (GRCm39)	missense	possibly damaging	0.47
R1585:Rlf	UTSW	4	121,005,488 (GRCm39)	missense	probably benign	0.10
R1627:Rlf	UTSW	4	121,007,197 (GRCm39)	missense	probably benign	0.34
R1709:Rlf	UTSW	4	121,007,020 (GRCm39)	missense	probably benign	0.00
R1968:Rlf	UTSW	4	121,005,617 (GRCm39)	missense	probably damaging	1.00
R1982:Rlf	UTSW	4	121,007,309 (GRCm39)	missense	probably damaging	1.00
R3120:Rlf	UTSW	4	121,006,680 (GRCm39)	missense	probably benign	0.01
R3155:Rlf	UTSW	4	121,006,529 (GRCm39)	missense	probably damaging	1.00
R3162:Rlf	UTSW	4	121,006,044 (GRCm39)	missense	probably damaging	1.00
R3162:Rlf	UTSW	4	121,006,044 (GRCm39)	missense	probably damaging	1.00
R3429:Rlf	UTSW	4	121,007,729 (GRCm39)	missense	probably benign	0.00
R3430:Rlf	UTSW	4	121,007,729 (GRCm39)	missense	probably benign	0.00
R3700:Rlf	UTSW	4	121,008,060 (GRCm39)	missense	possibly damaging	0.77
R3732:Rlf	UTSW	4	121,005,521 (GRCm39)	missense	probably benign
R3909:Rlf	UTSW	4	121,006,229 (GRCm39)	missense	probably benign	0.00
R4033:Rlf	UTSW	4	121,004,540 (GRCm39)	missense	probably damaging	1.00
R4350:Rlf	UTSW	4	121,006,293 (GRCm39)	missense	probably benign	0.16
R4654:Rlf	UTSW	4	121,007,798 (GRCm39)	missense	probably benign	0.28
R4976:Rlf	UTSW	4	121,004,652 (GRCm39)	missense	probably damaging	0.98
R5060:Rlf	UTSW	4	121,004,063 (GRCm39)	missense	probably benign	0.00
R5105:Rlf	UTSW	4	121,007,564 (GRCm39)	missense	probably damaging	1.00
R5119:Rlf	UTSW	4	121,004,652 (GRCm39)	missense	probably damaging	0.98
R5150:Rlf	UTSW	4	121,005,369 (GRCm39)	missense	probably damaging	1.00
R5198:Rlf	UTSW	4	121,005,750 (GRCm39)	nonsense	probably null
R5214:Rlf	UTSW	4	121,007,897 (GRCm39)	missense	probably damaging	1.00
R6084:Rlf	UTSW	4	121,006,412 (GRCm39)	missense	possibly damaging	0.95
R6131:Rlf	UTSW	4	121,012,172 (GRCm39)	missense	probably damaging	1.00
R6188:Rlf	UTSW	4	121,027,963 (GRCm39)	missense	probably damaging	1.00
R6313:Rlf	UTSW	4	121,005,807 (GRCm39)	missense	probably damaging	0.99
R6332:Rlf	UTSW	4	121,006,019 (GRCm39)	missense	possibly damaging	0.75
R6341:Rlf	UTSW	4	121,006,557 (GRCm39)	nonsense	probably null
R6413:Rlf	UTSW	4	121,004,522 (GRCm39)	missense	probably damaging	1.00
R6683:Rlf	UTSW	4	121,005,123 (GRCm39)	missense	probably damaging	1.00
R7066:Rlf	UTSW	4	121,005,984 (GRCm39)	missense	probably benign
R7413:Rlf	UTSW	4	121,007,297 (GRCm39)	missense	probably damaging	1.00
R7640:Rlf	UTSW	4	121,003,998 (GRCm39)	missense	possibly damaging	0.96
R7641:Rlf	UTSW	4	121,016,393 (GRCm39)	missense	probably damaging	1.00
R7855:Rlf	UTSW	4	121,039,888 (GRCm39)	missense	possibly damaging	0.93
R8127:Rlf	UTSW	4	121,005,093 (GRCm39)	missense	possibly damaging	0.89
R8146:Rlf	UTSW	4	121,004,429 (GRCm39)	missense	probably benign	0.16
R8182:Rlf	UTSW	4	121,008,102 (GRCm39)	missense	possibly damaging	0.94
R8350:Rlf	UTSW	4	121,027,954 (GRCm39)	missense	probably damaging	0.98
R8375:Rlf	UTSW	4	121,005,532 (GRCm39)	missense	probably damaging	0.96
R8754:Rlf	UTSW	4	121,004,010 (GRCm39)	missense	possibly damaging	0.90
R8837:Rlf	UTSW	4	121,045,432 (GRCm39)	missense	probably benign	0.06
R8901:Rlf	UTSW	4	121,004,010 (GRCm39)	missense	possibly damaging	0.90
R9054:Rlf	UTSW	4	121,007,784 (GRCm39)	missense	possibly damaging	0.47
R9090:Rlf	UTSW	4	121,004,751 (GRCm39)	missense	probably benign
R9144:Rlf	UTSW	4	121,003,900 (GRCm39)	missense	probably benign	0.16
R9265:Rlf	UTSW	4	121,007,487 (GRCm39)	missense	possibly damaging	0.63
R9271:Rlf	UTSW	4	121,004,751 (GRCm39)	missense	probably benign
R9549:Rlf	UTSW	4	121,005,320 (GRCm39)	missense	probably damaging	1.00
R9550:Rlf	UTSW	4	121,003,620 (GRCm39)	missense	probably damaging	1.00
R9570:Rlf	UTSW	4	121,007,087 (GRCm39)	missense	possibly damaging	0.90
R9627:Rlf	UTSW	4	121,007,002 (GRCm39)	nonsense	probably null
R9652:Rlf	UTSW	4	121,007,865 (GRCm39)	missense	probably damaging	1.00
Z1176:Rlf	UTSW	4	121,007,625 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGTAAAGCTGGCCCAAGTCAC -3'
(R):5'- TTAGCAAGTTAGAAGACCGCCGC -3'

Sequencing Primer
(F):5'- TGGCCCAAGTCACTGAAC -3'
(R):5'- ACAGAGACTTGTACCCGTGTC -3'

Posted On

2013-08-06