Mutagenetix > Incidental Mutation

Incidental Mutation 'R5517:Mcrs1'

431370

Institutional Source

Beutler Lab

Gene Symbol

Mcrs1

Ensembl Gene

ENSMUSG00000037570

Gene Name

microspherule protein 1

Synonyms

P78, MSP58, ICP22BP, C78274

MMRRC Submission

043076-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5517 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99242817-99251961 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99246995 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 246 (R246H)

Ref Sequence

ENSEMBL: ENSMUSP00000043901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041190] [ENSMUST00000041415] [ENSMUST00000163506] [ENSMUST00000229359] [ENSMUST00000229671] [ENSMUST00000229926]

AlphaFold

Q99L90

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041190
AA Change: R246H

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570
AA Change: R246H

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

possibly damaging
Transcript: ENSMUST00000163506
AA Change: R233H

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570
AA Change: R233H

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

noncoding transcript
Transcript: ENSMUST00000187706

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190683

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229143

Predicted Effect

probably benign
Transcript: ENSMUST00000229359

Predicted Effect

probably benign
Transcript: ENSMUST00000229399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229656

Predicted Effect

probably benign
Transcript: ENSMUST00000229671

Predicted Effect

probably benign
Transcript: ENSMUST00000229926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231167

Meta Mutation Damage Score

0.8335

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.5%

Validation Efficiency

99% (67/68)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	T	17: 35,958,341	R675K	possibly damaging	Het
Aire	A	T	10: 78,039,691	S282T	probably benign	Het
Ak9	A	G	10: 41,340,891	E283G	probably benign	Het
Akap2	T	C	4: 57,855,987	Y439H	probably damaging	Het
Akap9	T	A	5: 4,001,665	D1477E	possibly damaging	Het
Ap2a1	T	C	7: 44,906,981	D273G	possibly damaging	Het
Apob	T	C	12: 7,990,906	L664P	probably damaging	Het
Arhgap35	A	T	7: 16,563,489	F550L	probably damaging	Het
Armc2	T	C	10: 41,963,850	E373G	probably benign	Het
Atp8b2	C	A	3: 89,946,031	A726S	probably benign	Het
C030048H21Rik	T	A	2: 26,255,887	Q87L	probably damaging	Het
Cd244	T	A	1: 171,577,974		probably benign	Het
Cdk10	T	A	8: 123,230,587		probably null	Het
Cenpe	C	A	3: 135,223,265	P310Q	probably damaging	Het
Chuk	T	A	19: 44,097,533		probably null	Het
Crebl2	T	C	6: 134,851,176	S104P	probably benign	Het
Ddo	A	G	10: 40,647,730	K239E	probably benign	Het
Defb5	A	G	8: 19,250,852		probably null	Het
Dhx35	T	A	2: 158,834,912	M422K	probably damaging	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Gatm	G	A	2: 122,595,543	T409I	probably damaging	Het
Gdpd1	A	T	11: 87,059,506	D80E	probably damaging	Het
Gspt1	C	A	16: 11,253,979	G7C	unknown	Het
Hells	G	A	19: 38,954,800	S516N	probably benign	Het
Ints1	A	G	5: 139,752,787	S2069P	possibly damaging	Het
Kank4	G	A	4: 98,774,881	T690M	probably damaging	Het
Kcnq4	T	C	4: 120,715,809	N265S	possibly damaging	Het
Kif5b	C	A	18: 6,220,954	A385S	probably benign	Het
Map2	T	C	1: 66,415,256	S1102P	probably benign	Het
Mcm7	A	G	5: 138,164,871	S340P	possibly damaging	Het
Myo16	T	A	8: 10,560,226	M1189K	probably benign	Het
Olfr1302	G	T	2: 111,780,459	M46I	probably benign	Het
Olfr463	A	T	11: 87,893,066	I286N	probably damaging	Het
Olfr847	G	A	9: 19,375,767	T38I	probably damaging	Het
Otog	A	G	7: 46,274,571	N1118S	probably damaging	Het
Pcdhb7	G	T	18: 37,341,793		probably benign	Het
Picalm	C	T	7: 90,170,598	T189I	possibly damaging	Het
Ptx4	T	A	17: 25,124,786	S337T	possibly damaging	Het
Rad51ap2	C	T	12: 11,458,312	S745L	probably benign	Het
Rspry1	G	A	8: 94,636,760		probably null	Het
Scn5a	T	G	9: 119,495,713	I1350L	probably damaging	Het
Sgk2	T	C	2: 162,997,835	L121P	probably damaging	Het
Slc17a1	A	T	13: 23,872,592		probably benign	Het
Slc6a12	A	G	6: 121,354,339	N183S	probably benign	Het
Smg9	C	A	7: 24,414,913		probably benign	Het
Spred1	G	A	2: 117,177,714	S367N	probably damaging	Het
Srpr	T	C	9: 35,211,350	V21A	probably benign	Het
Taar2	A	T	10: 23,940,729	I56F	possibly damaging	Het
Taf1a	T	G	1: 183,395,985	L67R	probably damaging	Het
Tbc1d10b	C	A	7: 127,198,607	R787S	possibly damaging	Het
Topbp1	T	A	9: 103,336,114	N1044K	probably benign	Het
Usp24	A	G	4: 106,375,674	T886A	probably benign	Het
Vmn2r26	A	G	6: 124,050,717	D472G	probably damaging	Het
Zyg11a	T	C	4: 108,204,746	N286S	possibly damaging	Het

Other mutations in Mcrs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Mcrs1	APN	15	99243385	missense	probably damaging	0.97
IGL01338:Mcrs1	APN	15	99249501	missense	probably damaging	1.00
IGL01975:Mcrs1	APN	15	99243678	critical splice donor site	probably null
PIT4651001:Mcrs1	UTSW	15	99246951	missense	probably damaging	1.00
R0125:Mcrs1	UTSW	15	99244727	unclassified	probably benign
R0520:Mcrs1	UTSW	15	99248455	splice site	probably null
R0744:Mcrs1	UTSW	15	99243449	unclassified	probably benign
R0833:Mcrs1	UTSW	15	99243449	unclassified	probably benign
R0836:Mcrs1	UTSW	15	99243449	unclassified	probably benign
R2099:Mcrs1	UTSW	15	99249946	missense	probably benign	0.00
R2133:Mcrs1	UTSW	15	99243375	missense	probably damaging	1.00
R4557:Mcrs1	UTSW	15	99243147	missense	probably benign	0.01
R5425:Mcrs1	UTSW	15	99243688	missense	probably damaging	1.00
R7129:Mcrs1	UTSW	15	99248728	missense	probably damaging	1.00
R8012:Mcrs1	UTSW	15	99249885	missense	probably damaging	1.00
R8015:Mcrs1	UTSW	15	99248854	nonsense	probably null
R8025:Mcrs1	UTSW	15	99246933	nonsense	probably null
R8171:Mcrs1	UTSW	15	99248732	missense	probably damaging	1.00
R8191:Mcrs1	UTSW	15	99243325	missense	probably damaging	1.00
R8420:Mcrs1	UTSW	15	99243694	missense	probably damaging	1.00
R8486:Mcrs1	UTSW	15	99248468	nonsense	probably null
R8777:Mcrs1	UTSW	15	99243356	missense	probably damaging	1.00
R8777-TAIL:Mcrs1	UTSW	15	99243356	missense	probably damaging	1.00
R9626:Mcrs1	UTSW	15	99248472	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAGGCAGCAGGTTCTGTTG -3'
(R):5'- TGATGGAAACCATGCCTGG -3'

Sequencing Primer
(F):5'- GGGCTGCTGAGAACTCTC -3'
(R):5'- ATGCCTGGCCTCTGGTGAC -3'

Posted On

2016-10-05