Mutagenetix > Incidental Mutation

Incidental Mutation 'R8777-TAIL:Mcrs1'

668146

Institutional Source

Beutler Lab

Gene Symbol

Mcrs1

Ensembl Gene

ENSMUSG00000037570

Gene Name

microspherule protein 1

Synonyms

MSP58, P78, C78274, ICP22BP

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8777-TAIL

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99140698-99149838 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99141237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 422 (G422S)

Ref Sequence

ENSEMBL: ENSMUSP00000043901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041190] [ENSMUST00000041415] [ENSMUST00000163506]

AlphaFold

Q99L90

Predicted Effect

probably damaging
Transcript: ENSMUST00000041190
AA Change: G422S

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

SMART Domains

Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570
AA Change: G422S

Domain	Start	End	E-Value	Type
low complexity region	44	57	N/A	INTRINSIC
low complexity region	81	113	N/A	INTRINSIC
Pfam:MCRS_N	134	331	5.7e-98	PFAM
FHA	362	419	2.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041415

SMART Domains

Protein: ENSMUSP00000040548
Gene: ENSMUSG00000037579

Domain	Start	End	E-Value	Type
PAS	20	88	3.94e0	SMART
PAC	94	136	9.92e-6	SMART
low complexity region	148	159	N/A	INTRINSIC
Pfam:Ion_trans	224	523	3.8e-34	PFAM
Pfam:Ion_trans_2	453	517	1e-12	PFAM
cNMP	593	708	2.04e-16	SMART
low complexity region	781	800	N/A	INTRINSIC
low complexity region	857	872	N/A	INTRINSIC
coiled coil region	886	918	N/A	INTRINSIC
low complexity region	977	993	N/A	INTRINSIC
low complexity region	1022	1035	N/A	INTRINSIC
low complexity region	1054	1062	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163506
AA Change: G409S

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

SMART Domains

Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570
AA Change: G409S

Domain	Start	End	E-Value	Type
low complexity region	31	44	N/A	INTRINSIC
low complexity region	68	100	N/A	INTRINSIC
Pfam:MCRS_N	121	318	2.4e-97	PFAM
FHA	349	406	2.04e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229399

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,894 (GRCm39)	T816S	probably benign	Het
Aff4	G	A	11: 53,290,783 (GRCm39)	S581N	probably damaging	Het
Aimp2	G	A	5: 143,839,825 (GRCm39)	A253V	probably damaging	Het
Arl6ip4	T	G	5: 124,254,611 (GRCm39)	S35A	probably benign	Het
Atp1a4	A	T	1: 172,059,869 (GRCm39)	Y787N	probably damaging	Het
Btbd8	T	G	5: 107,658,293 (GRCm39)	I1621R	probably damaging	Het
Ccdc169	T	C	3: 55,058,334 (GRCm39)	S13P	probably damaging	Het
Ccdc186	G	A	19: 56,801,793 (GRCm39)	S108F	probably damaging	Het
Ccdc39	G	A	3: 33,893,282 (GRCm39)	T101I	probably benign	Het
Cdh13	G	T	8: 119,963,706 (GRCm39)		probably null	Het
Clec1b	A	T	6: 129,380,537 (GRCm39)	E151V	probably benign	Het
Cplx1	T	A	5: 108,673,435 (GRCm39)		probably null	Het
Diablo	T	A	5: 123,655,990 (GRCm39)	I150F	unknown	Het
Esp31	T	C	17: 38,955,582 (GRCm39)	V75A	probably benign	Het
Gm49336	G	A	14: 60,466,185 (GRCm39)	L458F	probably damaging	Het
Grin3b	A	T	10: 79,808,972 (GRCm39)	S241C	possibly damaging	Het
Gxylt2	A	G	6: 100,727,432 (GRCm39)	N182S	probably damaging	Het
Hephl1	T	G	9: 14,972,090 (GRCm39)	D950A	probably benign	Het
Hkdc1	A	G	10: 62,234,612 (GRCm39)	I556T	possibly damaging	Het
Ints4	C	A	7: 97,134,227 (GRCm39)	A53D	probably damaging	Het
Kmt5c	T	C	7: 4,745,712 (GRCm39)	V124A	possibly damaging	Het
Lrpprc	T	A	17: 85,058,657 (GRCm39)	Q734H	probably benign	Het
Map1b	T	C	13: 99,567,304 (GRCm39)	T1806A	unknown	Het
Mcmbp	A	T	7: 128,308,855 (GRCm39)	F389I	probably damaging	Het
Mgam	A	G	6: 40,632,185 (GRCm39)	H173R	probably damaging	Het
Mib1	G	A	18: 10,747,422 (GRCm39)	G200S	probably benign	Het
Myh13	A	T	11: 67,252,161 (GRCm39)	Q1423L	possibly damaging	Het
Myh2	A	G	11: 67,083,398 (GRCm39)	R1454G	possibly damaging	Het
Mylk4	C	T	13: 32,913,089 (GRCm39)	V70I	probably benign	Het
Myof	A	G	19: 37,968,841 (GRCm39)	V358A	probably benign	Het
Ncor1	T	A	11: 62,324,492 (GRCm39)	I48F	probably benign	Het
Ncor1	T	A	11: 62,324,494 (GRCm39)	H47L	probably damaging	Het
Neurog2	G	T	3: 127,427,742 (GRCm39)	R122L	probably damaging	Het
Npdc1	T	A	2: 25,298,129 (GRCm39)	L193Q	probably damaging	Het
Nrxn3	A	G	12: 89,227,234 (GRCm39)	N290D	probably damaging	Het
Nynrin	T	C	14: 56,109,120 (GRCm39)	M1409T	probably benign	Het
Oas1h	T	C	5: 121,005,107 (GRCm39)	L185P	probably damaging	Het
Or10x4	A	T	1: 174,218,848 (GRCm39)	Y71F	probably damaging	Het
Or2z2	C	T	11: 58,346,757 (GRCm39)	W6*	probably null	Het
Or6c3	T	A	10: 129,309,374 (GRCm39)	V271E	possibly damaging	Het
Osbpl8	T	A	10: 111,128,974 (GRCm39)	N853K	probably benign	Het
Pcsk4	G	T	10: 80,159,557 (GRCm39)	P405Q	probably benign	Het
Piwil4	A	C	9: 14,650,685 (GRCm39)		probably null	Het
Pkhd1l1	T	C	15: 44,361,967 (GRCm39)	Y547H	probably damaging	Het
Prr36	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC	8: 4,266,273 (GRCm39)		probably benign	Het
Rft1	T	C	14: 30,382,156 (GRCm39)	L51P	probably damaging	Het
Rufy2	T	G	10: 62,833,660 (GRCm39)	L241V	possibly damaging	Het
Slc5a5	T	C	8: 71,343,934 (GRCm39)	I155V	possibly damaging	Het
Slc7a2	T	G	8: 41,351,991 (GRCm39)	M18R	probably damaging	Het
Snapc4	A	G	2: 26,259,375 (GRCm39)	S592P	probably benign	Het
Strn4	T	C	7: 16,550,533 (GRCm39)	W86R	probably damaging	Het
Tenm4	A	G	7: 96,545,244 (GRCm39)	N2457S	probably damaging	Het
Tent4a	T	A	13: 69,658,824 (GRCm39)	D337V	probably damaging	Het
Timd4	C	A	11: 46,706,309 (GRCm39)	T37N	possibly damaging	Het
Tmem268	T	A	4: 63,496,076 (GRCm39)	N172K	probably damaging	Het
Trrap	T	A	5: 144,773,949 (GRCm39)	V2855D	probably benign	Het
Tubb6	A	T	18: 67,534,598 (GRCm39)	T166S	probably damaging	Het
Tufm	A	G	7: 126,088,034 (GRCm39)	Y179C	probably benign	Het
Tut7	T	C	13: 59,933,597 (GRCm39)	N1302D	probably benign	Het
Ube2r2	C	T	4: 41,190,715 (GRCm39)	S203L	possibly damaging	Het
Vldlr	G	T	19: 27,217,946 (GRCm39)	V465L	probably benign	Het
Vmn2r16	C	T	5: 109,488,231 (GRCm39)	T368M	probably benign	Het
Vmn2r42	A	G	7: 8,195,692 (GRCm39)	F485L	probably benign	Het

Other mutations in Mcrs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Mcrs1	APN	15	99,141,266 (GRCm39)	missense	probably damaging	0.97
IGL01338:Mcrs1	APN	15	99,147,382 (GRCm39)	missense	probably damaging	1.00
IGL01975:Mcrs1	APN	15	99,141,559 (GRCm39)	critical splice donor site	probably null
PIT4651001:Mcrs1	UTSW	15	99,144,832 (GRCm39)	missense	probably damaging	1.00
R0125:Mcrs1	UTSW	15	99,142,608 (GRCm39)	unclassified	probably benign
R0520:Mcrs1	UTSW	15	99,146,336 (GRCm39)	splice site	probably null
R0744:Mcrs1	UTSW	15	99,141,330 (GRCm39)	unclassified	probably benign
R0833:Mcrs1	UTSW	15	99,141,330 (GRCm39)	unclassified	probably benign
R0836:Mcrs1	UTSW	15	99,141,330 (GRCm39)	unclassified	probably benign
R2099:Mcrs1	UTSW	15	99,147,827 (GRCm39)	missense	probably benign	0.00
R2133:Mcrs1	UTSW	15	99,141,256 (GRCm39)	missense	probably damaging	1.00
R4557:Mcrs1	UTSW	15	99,141,028 (GRCm39)	missense	probably benign	0.01
R5425:Mcrs1	UTSW	15	99,141,569 (GRCm39)	missense	probably damaging	1.00
R5517:Mcrs1	UTSW	15	99,144,876 (GRCm39)	missense	possibly damaging	0.88
R7129:Mcrs1	UTSW	15	99,146,609 (GRCm39)	missense	probably damaging	1.00
R8012:Mcrs1	UTSW	15	99,147,766 (GRCm39)	missense	probably damaging	1.00
R8015:Mcrs1	UTSW	15	99,146,735 (GRCm39)	nonsense	probably null
R8025:Mcrs1	UTSW	15	99,144,814 (GRCm39)	nonsense	probably null
R8171:Mcrs1	UTSW	15	99,146,613 (GRCm39)	missense	probably damaging	1.00
R8191:Mcrs1	UTSW	15	99,141,206 (GRCm39)	missense	probably damaging	1.00
R8420:Mcrs1	UTSW	15	99,141,575 (GRCm39)	missense	probably damaging	1.00
R8486:Mcrs1	UTSW	15	99,146,349 (GRCm39)	nonsense	probably null
R8777:Mcrs1	UTSW	15	99,141,237 (GRCm39)	missense	probably damaging	1.00
R9626:Mcrs1	UTSW	15	99,146,353 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2021-03-08