Mutagenetix > Incidental Mutation

Incidental Mutation 'R2894:Lrrc37a'

260712

Institutional Source

Beutler Lab

Gene Symbol

Lrrc37a

Ensembl Gene

ENSMUSG00000078632

Gene Name

leucine rich repeat containing 37A

Synonyms

LOC237954

MMRRC Submission

040482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R2894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103341535-103395423 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103388690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 2245 (T2245I)

Ref Sequence

ENSEMBL: ENSMUSP00000121903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000153273]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000153273
AA Change: T2245I

SMART Domains

Protein: ENSMUSP00000121903
Gene: ENSMUSG00000078632
AA Change: T2245I

Domain	Start	End	E-Value	Type
Pfam:LRRC37	199	269	2.6e-15	PFAM
low complexity region	313	329	N/A	INTRINSIC
Pfam:LRRC37	363	432	4e-18	PFAM
low complexity region	457	467	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
Pfam:LRRC37	550	619	2.1e-21	PFAM
Pfam:LRRC37	637	704	2.9e-12	PFAM
Pfam:LRRC37	780	851	2.5e-12	PFAM
Pfam:LRRC37	1078	1148	2.7e-18	PFAM
Pfam:LRRC37	1149	1190	2.1e-7	PFAM
Pfam:LRRC37	1187	1258	2.5e-25	PFAM
Pfam:LRRC37	1255	1300	2.6e-7	PFAM
Pfam:LRRC37	1299	1370	2.4e-27	PFAM
Pfam:LRRC37	1369	1420	2.9e-8	PFAM
Pfam:LRRC37	1419	1488	1.3e-24	PFAM
Pfam:LRRC37	1509	1578	9.2e-21	PFAM
Pfam:LRRC37	1575	1620	1.7e-6	PFAM
Pfam:LRRC37	1619	1686	1.7e-20	PFAM
Pfam:LRRC37	1690	1736	7e-10	PFAM
Pfam:LRRC37	1733	1799	7.5e-17	PFAM
Pfam:LRRC37	1789	1854	5.1e-12	PFAM
Pfam:LRRC37	1850	1921	4.2e-21	PFAM
Pfam:LRRC37	1915	1969	1.1e-9	PFAM
low complexity region	2143	2167	N/A	INTRINSIC
low complexity region	2185	2209	N/A	INTRINSIC
low complexity region	2228	2249	N/A	INTRINSIC
low complexity region	2262	2274	N/A	INTRINSIC
low complexity region	2284	2297	N/A	INTRINSIC
LRR	2419	2438	3.09e1	SMART
LRR	2439	2462	9.96e-1	SMART
LRR	2463	2486	8.24e0	SMART
LRR	2490	2514	3.18e1	SMART
low complexity region	2535	2547	N/A	INTRINSIC
coiled coil region	2712	2735	N/A	INTRINSIC
low complexity region	2861	2871	N/A	INTRINSIC
low complexity region	2937	2950	N/A	INTRINSIC
Pfam:LRRC37AB_C	3063	3209	1.1e-77	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Acox3	A	G	5: 35,757,192 (GRCm39)	I344V	probably benign	Het
Ank2	T	C	3: 127,041,892 (GRCm39)		probably null	Het
Ccl4	C	A	11: 83,554,329 (GRCm39)		probably null	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Cdk5rap2	T	C	4: 70,208,110 (GRCm39)	K779E	probably benign	Het
Cenpu	C	A	8: 47,029,384 (GRCm39)	N212K	probably damaging	Het
Dcun1d2	A	T	8: 13,328,649 (GRCm39)	I86N	probably damaging	Het
Dnah1	T	A	14: 31,020,718 (GRCm39)	E1217V	possibly damaging	Het
Dusp15	T	C	2: 152,791,005 (GRCm39)	I31V	probably benign	Het
Ern2	A	C	7: 121,780,810 (GRCm39)	S114A	possibly damaging	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fmo6	C	T	1: 162,750,293 (GRCm39)	W254*	probably null	Het
Gm16494	T	C	17: 47,327,632 (GRCm39)	E84G	unknown	Het
Kdr	A	G	5: 76,107,496 (GRCm39)	F1016L	probably damaging	Het
Mdga1	T	C	17: 30,071,478 (GRCm39)	Y381C	probably damaging	Het
Msh3	G	T	13: 92,478,868 (GRCm39)	A367D	probably benign	Het
Nadk	A	G	4: 155,671,817 (GRCm39)	N232S	possibly damaging	Het
Or51e1	A	G	7: 102,358,882 (GRCm39)	T139A	probably damaging	Het
Or7g29	A	T	9: 19,286,588 (GRCm39)	Y196*	probably null	Het
Per2	C	A	1: 91,373,325 (GRCm39)	Q154H	probably damaging	Het
Pik3ap1	G	A	19: 41,364,500 (GRCm39)	A73V	probably benign	Het
Pramel16	A	T	4: 143,675,692 (GRCm39)	M378K	probably damaging	Het
Rad18	G	A	6: 112,652,734 (GRCm39)	Q288*	probably null	Het
Rarb	T	C	14: 16,435,146 (GRCm38)	D300G	probably damaging	Het
Ruvbl1	C	T	6: 88,456,114 (GRCm39)	R63W	possibly damaging	Het
Setdb2	T	C	14: 59,663,916 (GRCm39)	N77S	probably benign	Het
Slc22a19	C	A	19: 7,670,169 (GRCm39)	K228N	probably benign	Het
Thoc6	A	G	17: 23,888,009 (GRCm39)	S292P	probably damaging	Het
Tmem126b	A	T	7: 90,120,121 (GRCm39)	S83R	probably damaging	Het
Tmem232	C	T	17: 65,757,408 (GRCm39)	E262K	probably damaging	Het
Vmn2r60	T	C	7: 41,785,220 (GRCm39)	V144A	probably benign	Het
Vpreb3	C	T	10: 75,779,056 (GRCm39)		probably benign	Het
Vwa8	A	G	14: 79,275,578 (GRCm39)	N787S	probably damaging	Het

Other mutations in Lrrc37a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Lrrc37a	APN	11	103,391,177 (GRCm39)	missense	probably benign	0.09
IGL01339:Lrrc37a	APN	11	103,388,763 (GRCm39)	missense	unknown
IGL01352:Lrrc37a	APN	11	103,390,181 (GRCm39)	missense	probably benign	0.39
IGL01382:Lrrc37a	APN	11	103,389,581 (GRCm39)	missense	probably damaging	0.99
IGL01395:Lrrc37a	APN	11	103,394,687 (GRCm39)	missense	probably benign	0.24
IGL01645:Lrrc37a	APN	11	103,395,090 (GRCm39)	missense	probably benign	0.01
IGL01925:Lrrc37a	APN	11	103,389,245 (GRCm39)	missense	probably benign	0.01
IGL02006:Lrrc37a	APN	11	103,347,317 (GRCm39)	missense	probably damaging	1.00
IGL02127:Lrrc37a	APN	11	103,395,365 (GRCm39)	missense	probably benign	0.01
IGL02184:Lrrc37a	APN	11	103,388,435 (GRCm39)	missense	unknown
IGL02218:Lrrc37a	APN	11	103,391,207 (GRCm39)	missense	probably benign	0.03
IGL02436:Lrrc37a	APN	11	103,389,003 (GRCm39)	missense	unknown
IGL02487:Lrrc37a	APN	11	103,386,863 (GRCm39)	missense	unknown
IGL02597:Lrrc37a	APN	11	103,395,113 (GRCm39)	missense	probably benign	0.01
IGL02634:Lrrc37a	APN	11	103,389,938 (GRCm39)	missense	probably benign	0.09
IGL02818:Lrrc37a	APN	11	103,392,132 (GRCm39)	missense	possibly damaging	0.47
IGL02829:Lrrc37a	APN	11	103,382,000 (GRCm39)	missense	unknown
IGL02987:Lrrc37a	APN	11	103,391,239 (GRCm39)	missense	probably benign	0.03
IGL03081:Lrrc37a	APN	11	103,347,421 (GRCm39)	missense	unknown
IGL03210:Lrrc37a	APN	11	103,390,331 (GRCm39)	missense	probably benign	0.29
IGL03239:Lrrc37a	APN	11	103,390,233 (GRCm39)	missense	probably benign	0.03
IGL03285:Lrrc37a	APN	11	103,388,499 (GRCm39)	missense	unknown
IGL03296:Lrrc37a	APN	11	103,388,499 (GRCm39)	missense	unknown
IGL03299:Lrrc37a	APN	11	103,388,499 (GRCm39)	missense	unknown
IGL03370:Lrrc37a	APN	11	103,388,499 (GRCm39)	missense	unknown
IGL03390:Lrrc37a	APN	11	103,386,857 (GRCm39)	missense	unknown
Lark	UTSW	11	103,355,180 (GRCm39)	critical splice donor site	probably null
Longspur	UTSW	11	103,393,140 (GRCm39)	missense	probably benign	0.42
F5770:Lrrc37a	UTSW	11	103,346,338 (GRCm39)	missense	possibly damaging	0.95
P0035:Lrrc37a	UTSW	11	103,393,958 (GRCm39)	missense	possibly damaging	0.84
PIT4458001:Lrrc37a	UTSW	11	103,395,338 (GRCm39)	missense	probably benign	0.04
R0112:Lrrc37a	UTSW	11	103,391,739 (GRCm39)	missense	probably benign	0.19
R0194:Lrrc37a	UTSW	11	103,390,616 (GRCm39)	missense	possibly damaging	0.82
R0360:Lrrc37a	UTSW	11	103,391,466 (GRCm39)	missense	possibly damaging	0.89
R0364:Lrrc37a	UTSW	11	103,391,466 (GRCm39)	missense	possibly damaging	0.89
R0395:Lrrc37a	UTSW	11	103,355,221 (GRCm39)	missense	unknown
R0418:Lrrc37a	UTSW	11	103,394,264 (GRCm39)	missense	probably benign	0.03
R0505:Lrrc37a	UTSW	11	103,393,851 (GRCm39)	missense	probably benign	0.10
R0583:Lrrc37a	UTSW	11	103,389,263 (GRCm39)	missense	probably benign	0.01
R1078:Lrrc37a	UTSW	11	103,388,457 (GRCm39)	missense	unknown
R1581:Lrrc37a	UTSW	11	103,347,843 (GRCm39)	nonsense	probably null
R1888:Lrrc37a	UTSW	11	103,389,587 (GRCm39)	missense	probably benign	0.18
R1888:Lrrc37a	UTSW	11	103,389,587 (GRCm39)	missense	probably benign	0.18
R1907:Lrrc37a	UTSW	11	103,347,982 (GRCm39)	missense	unknown
R1982:Lrrc37a	UTSW	11	103,389,792 (GRCm39)	missense	probably benign	0.20
R1991:Lrrc37a	UTSW	11	103,391,087 (GRCm39)	missense	probably benign	0.29
R2017:Lrrc37a	UTSW	11	103,391,951 (GRCm39)	missense	probably benign	0.03
R2103:Lrrc37a	UTSW	11	103,391,087 (GRCm39)	missense	probably benign	0.29
R2110:Lrrc37a	UTSW	11	103,388,648 (GRCm39)	missense	unknown
R2190:Lrrc37a	UTSW	11	103,390,869 (GRCm39)	missense	possibly damaging	0.82
R2252:Lrrc37a	UTSW	11	103,392,293 (GRCm39)	missense	probably benign	0.01
R2253:Lrrc37a	UTSW	11	103,392,293 (GRCm39)	missense	probably benign	0.01
R2899:Lrrc37a	UTSW	11	103,388,690 (GRCm39)	missense	unknown
R3439:Lrrc37a	UTSW	11	103,388,690 (GRCm39)	missense	unknown
R3899:Lrrc37a	UTSW	11	103,388,372 (GRCm39)	missense	unknown
R3916:Lrrc37a	UTSW	11	103,346,344 (GRCm39)	missense	possibly damaging	0.83
R3921:Lrrc37a	UTSW	11	103,392,296 (GRCm39)	missense	probably benign	0.10
R3977:Lrrc37a	UTSW	11	103,348,430 (GRCm39)	missense	unknown
R4043:Lrrc37a	UTSW	11	103,389,479 (GRCm39)	missense	possibly damaging	0.95
R4077:Lrrc37a	UTSW	11	103,388,808 (GRCm39)	missense	unknown
R4237:Lrrc37a	UTSW	11	103,393,115 (GRCm39)	missense	probably damaging	0.97
R4461:Lrrc37a	UTSW	11	103,355,180 (GRCm39)	critical splice donor site	probably null
R4498:Lrrc37a	UTSW	11	103,392,624 (GRCm39)	missense	probably benign	0.20
R4593:Lrrc37a	UTSW	11	103,389,795 (GRCm39)	missense	possibly damaging	0.64
R4670:Lrrc37a	UTSW	11	103,395,363 (GRCm39)	missense	probably benign	0.10
R4698:Lrrc37a	UTSW	11	103,394,930 (GRCm39)	missense	possibly damaging	0.83
R4750:Lrrc37a	UTSW	11	103,346,306 (GRCm39)	missense	probably benign	0.24
R4805:Lrrc37a	UTSW	11	103,395,135 (GRCm39)	missense	probably benign	0.01
R4940:Lrrc37a	UTSW	11	103,388,438 (GRCm39)	missense	unknown
R4983:Lrrc37a	UTSW	11	103,388,444 (GRCm39)	missense	unknown
R4989:Lrrc37a	UTSW	11	103,347,565 (GRCm39)	missense	unknown
R5046:Lrrc37a	UTSW	11	103,389,066 (GRCm39)	missense	unknown
R5217:Lrrc37a	UTSW	11	103,347,780 (GRCm39)	missense	unknown
R5300:Lrrc37a	UTSW	11	103,347,784 (GRCm39)	missense	unknown
R5509:Lrrc37a	UTSW	11	103,391,361 (GRCm39)	missense	probably benign	0.23
R5550:Lrrc37a	UTSW	11	103,389,003 (GRCm39)	missense	unknown
R5655:Lrrc37a	UTSW	11	103,389,381 (GRCm39)	missense	probably benign	0.28
R5668:Lrrc37a	UTSW	11	103,391,001 (GRCm39)	missense	probably benign	0.03
R5750:Lrrc37a	UTSW	11	103,348,923 (GRCm39)	missense	unknown
R5815:Lrrc37a	UTSW	11	103,394,612 (GRCm39)	missense	probably benign	0.01
R5976:Lrrc37a	UTSW	11	103,389,897 (GRCm39)	missense	possibly damaging	0.73
R5990:Lrrc37a	UTSW	11	103,391,784 (GRCm39)	missense	probably benign	0.19
R6004:Lrrc37a	UTSW	11	103,393,362 (GRCm39)	missense	possibly damaging	0.56
R6019:Lrrc37a	UTSW	11	103,347,422 (GRCm39)	missense	unknown
R6056:Lrrc37a	UTSW	11	103,388,484 (GRCm39)	missense	unknown
R6125:Lrrc37a	UTSW	11	103,392,386 (GRCm39)	missense	probably benign	0.19
R6190:Lrrc37a	UTSW	11	103,392,042 (GRCm39)	missense	possibly damaging	0.67
R6295:Lrrc37a	UTSW	11	103,388,459 (GRCm39)	missense	unknown
R6320:Lrrc37a	UTSW	11	103,394,877 (GRCm39)	missense	probably benign	0.10
R6354:Lrrc37a	UTSW	11	103,355,213 (GRCm39)	missense	unknown
R6375:Lrrc37a	UTSW	11	103,391,915 (GRCm39)	missense	probably benign	0.19
R6406:Lrrc37a	UTSW	11	103,388,361 (GRCm39)	missense	unknown
R6468:Lrrc37a	UTSW	11	103,351,666 (GRCm39)	missense	unknown
R6490:Lrrc37a	UTSW	11	103,347,486 (GRCm39)	missense	unknown
R6502:Lrrc37a	UTSW	11	103,383,005 (GRCm39)	missense	unknown
R6509:Lrrc37a	UTSW	11	103,395,240 (GRCm39)	missense	probably benign	0.04
R6749:Lrrc37a	UTSW	11	103,392,923 (GRCm39)	missense	probably benign	0.29
R6768:Lrrc37a	UTSW	11	103,390,949 (GRCm39)	missense	probably benign	0.36
R6912:Lrrc37a	UTSW	11	103,348,369 (GRCm39)	missense	unknown
R7081:Lrrc37a	UTSW	11	103,348,781 (GRCm39)	missense	unknown
R7083:Lrrc37a	UTSW	11	103,394,166 (GRCm39)	missense	probably benign	0.03
R7154:Lrrc37a	UTSW	11	103,393,682 (GRCm39)	missense	probably benign	0.03
R7195:Lrrc37a	UTSW	11	103,348,601 (GRCm39)	missense	unknown
R7265:Lrrc37a	UTSW	11	103,389,767 (GRCm39)	missense	probably benign	0.09
R7276:Lrrc37a	UTSW	11	103,347,572 (GRCm39)	missense	unknown
R7362:Lrrc37a	UTSW	11	103,348,335 (GRCm39)	missense	unknown
R7450:Lrrc37a	UTSW	11	103,389,152 (GRCm39)	missense	probably benign	0.01
R7458:Lrrc37a	UTSW	11	103,388,258 (GRCm39)	missense	unknown
R7487:Lrrc37a	UTSW	11	103,389,045 (GRCm39)	missense	unknown
R7535:Lrrc37a	UTSW	11	103,392,683 (GRCm39)	missense	possibly damaging	0.68
R7593:Lrrc37a	UTSW	11	103,391,778 (GRCm39)	missense	probably benign	0.03
R7677:Lrrc37a	UTSW	11	103,390,464 (GRCm39)	missense	probably benign	0.26
R7686:Lrrc37a	UTSW	11	103,389,062 (GRCm39)	missense	unknown
R7694:Lrrc37a	UTSW	11	103,395,204 (GRCm39)	missense	probably benign	0.12
R7696:Lrrc37a	UTSW	11	103,389,263 (GRCm39)	missense	probably benign	0.01
R7717:Lrrc37a	UTSW	11	103,395,126 (GRCm39)	missense	probably benign	0.01
R7736:Lrrc37a	UTSW	11	103,388,285 (GRCm39)	missense	unknown
R7841:Lrrc37a	UTSW	11	103,391,931 (GRCm39)	missense	probably benign	0.03
R7885:Lrrc37a	UTSW	11	103,393,868 (GRCm39)	missense	probably benign	0.01
R7888:Lrrc37a	UTSW	11	103,392,307 (GRCm39)	missense	probably benign	0.19
R7993:Lrrc37a	UTSW	11	103,348,787 (GRCm39)	missense	unknown
R8051:Lrrc37a	UTSW	11	103,393,952 (GRCm39)	missense	possibly damaging	0.48
R8082:Lrrc37a	UTSW	11	103,348,248 (GRCm39)	missense	unknown
R8097:Lrrc37a	UTSW	11	103,394,925 (GRCm39)	missense	probably benign	0.04
R8108:Lrrc37a	UTSW	11	103,393,883 (GRCm39)	missense	probably benign	0.24
R8269:Lrrc37a	UTSW	11	103,388,724 (GRCm39)	missense	unknown
R8311:Lrrc37a	UTSW	11	103,394,247 (GRCm39)	missense	probably benign	0.05
R8403:Lrrc37a	UTSW	11	103,392,411 (GRCm39)	missense	probably benign	0.10
R8408:Lrrc37a	UTSW	11	103,351,635 (GRCm39)	missense	unknown
R8529:Lrrc37a	UTSW	11	103,348,373 (GRCm39)	missense	unknown
R8711:Lrrc37a	UTSW	11	103,388,350 (GRCm39)	nonsense	probably null
R8757:Lrrc37a	UTSW	11	103,348,766 (GRCm39)	missense	unknown
R8759:Lrrc37a	UTSW	11	103,348,766 (GRCm39)	missense	unknown
R8769:Lrrc37a	UTSW	11	103,389,536 (GRCm39)	missense	probably benign	0.10
R8785:Lrrc37a	UTSW	11	103,347,242 (GRCm39)	missense	probably damaging	1.00
R8837:Lrrc37a	UTSW	11	103,394,795 (GRCm39)	missense	probably benign	0.43
R8850:Lrrc37a	UTSW	11	103,393,481 (GRCm39)	missense
R8871:Lrrc37a	UTSW	11	103,347,375 (GRCm39)	missense	unknown
R8894:Lrrc37a	UTSW	11	103,347,449 (GRCm39)	missense	unknown
R8971:Lrrc37a	UTSW	11	103,391,490 (GRCm39)	missense	probably benign	0.19
R8979:Lrrc37a	UTSW	11	103,393,833 (GRCm39)	missense	possibly damaging	0.48
R9012:Lrrc37a	UTSW	11	103,389,978 (GRCm39)	missense	probably benign	0.05
R9047:Lrrc37a	UTSW	11	103,391,375 (GRCm39)	missense	probably damaging	0.97
R9167:Lrrc37a	UTSW	11	103,347,658 (GRCm39)	missense	unknown
R9171:Lrrc37a	UTSW	11	103,393,140 (GRCm39)	missense	probably benign	0.42
R9194:Lrrc37a	UTSW	11	103,391,676 (GRCm39)	missense	probably benign	0.03
R9258:Lrrc37a	UTSW	11	103,393,022 (GRCm39)	missense	probably benign	0.20
R9282:Lrrc37a	UTSW	11	103,391,633 (GRCm39)	missense	probably benign	0.03
R9294:Lrrc37a	UTSW	11	103,395,359 (GRCm39)	missense	probably benign	0.10
R9349:Lrrc37a	UTSW	11	103,388,454 (GRCm39)	missense	unknown
R9560:Lrrc37a	UTSW	11	103,347,420 (GRCm39)	missense	unknown
R9595:Lrrc37a	UTSW	11	103,392,552 (GRCm39)	missense	probably benign	0.01
R9628:Lrrc37a	UTSW	11	103,394,330 (GRCm39)	missense	probably benign	0.03
V7580:Lrrc37a	UTSW	11	103,346,338 (GRCm39)	missense	possibly damaging	0.95
X0018:Lrrc37a	UTSW	11	103,390,370 (GRCm39)	missense	possibly damaging	0.78
Z1176:Lrrc37a	UTSW	11	103,391,920 (GRCm39)	missense	probably benign	0.09
Z1176:Lrrc37a	UTSW	11	103,389,860 (GRCm39)	missense	possibly damaging	0.68
Z1176:Lrrc37a	UTSW	11	103,347,312 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc37a	UTSW	11	103,391,346 (GRCm39)	missense	probably benign	0.43
Z1177:Lrrc37a	UTSW	11	103,390,793 (GRCm39)	missense	possibly damaging	0.46
Z1177:Lrrc37a	UTSW	11	103,393,853 (GRCm39)	missense	probably benign	0.20
Z1177:Lrrc37a	UTSW	11	103,391,424 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TATTTGCTGAGCTGTGGTCTCA -3'
(R):5'- GCTCATGGTCAATCTCAGCATC -3'

Sequencing Primer
(F):5'- AGCTGTGGTCTCAAGCATAG -3'
(R):5'- TGGTCAATCTCAGCATCTAAACTCAG -3'

Posted On

2015-01-23