Mutagenetix > Incidental Mutation

Incidental Mutation 'R0833:Mcrs1'

77677

Institutional Source

Beutler Lab

Gene Symbol

Mcrs1

Ensembl Gene

ENSMUSG00000037570

Gene Name

microspherule protein 1

Synonyms

P78, MSP58, ICP22BP, C78274

MMRRC Submission

039012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99242817-99251961 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 99243449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q99L90

Predicted Effect

probably benign
Transcript: ENSMUST00000041190

SMART Domains

Protein: ENSMUSP00000043901
Gene: ENSMUSG00000037570

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 benign
Transcript: ENSMUST00000163506

SMART Domains

Protein: ENSMUSP00000131407
Gene: ENSMUSG00000037570

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: ENSMUST00000229143

Predicted Effect

probably benign
Transcript: ENSMUST00000229399

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231020

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.6%

Validation Efficiency

100% (97/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,165,069 (GRCm38)	L41P	probably damaging	Het
3110082I17Rik	A	G	5: 139,364,120 (GRCm38)	V58A	possibly damaging	Het
4932415M13Rik	A	T	17: 53,724,346 (GRCm38)		noncoding transcript	Het
Aldh1a7	C	T	19: 20,702,243 (GRCm38)	V390M	probably damaging	Het
Alg14	A	G	3: 121,298,610 (GRCm38)	H34R	probably damaging	Het
Ankrd27	A	G	7: 35,608,347 (GRCm38)	N337S	probably damaging	Het
Apoa2	T	A	1: 171,225,379 (GRCm38)		probably benign	Het
Arl2	T	G	19: 6,136,022 (GRCm38)	K126T	probably damaging	Het
Ascc3	T	C	10: 50,845,666 (GRCm38)	W2072R	probably benign	Het
Astl	T	C	2: 127,342,419 (GRCm38)	F21L	probably benign	Het
Asxl3	A	G	18: 22,516,040 (GRCm38)	D362G	probably damaging	Het
Bdp1	A	T	13: 100,035,825 (GRCm38)	H2094Q	probably benign	Het
Cacna2d4	C	T	6: 119,307,286 (GRCm38)	R745W	probably damaging	Het
Ccdc85a	T	A	11: 28,583,296 (GRCm38)	I83F	probably damaging	Het
Ccnt2	T	A	1: 127,802,394 (GRCm38)	M336K	probably benign	Het
Cd226	A	C	18: 89,207,020 (GRCm38)		probably benign	Het
Ceacam23	C	A	7: 17,904,981 (GRCm38)	A301E	possibly damaging	Het
Ces1f	A	T	8: 93,270,024 (GRCm38)	S214T	probably damaging	Het
Clip1	T	C	5: 123,630,721 (GRCm38)	D605G	probably benign	Het
Col26a1	A	G	5: 136,765,300 (GRCm38)		probably null	Het
Crtc1	A	G	8: 70,393,013 (GRCm38)	V306A	probably benign	Het
D130043K22Rik	G	A	13: 24,863,580 (GRCm38)		probably benign	Het
D17H6S53E	A	T	17: 35,127,409 (GRCm38)		probably null	Het
Dnah11	G	A	12: 118,196,662 (GRCm38)	A111V	probably benign	Het
Dyrk2	T	C	10: 118,861,122 (GRCm38)	H77R	probably benign	Het
E330017A01Rik	G	A	16: 58,635,523 (GRCm38)	S129L	probably damaging	Het
Epha3	A	G	16: 63,603,519 (GRCm38)		probably benign	Het
Epn2	T	C	11: 61,519,491 (GRCm38)	N611S	probably benign	Het
Erich6	A	C	3: 58,618,944 (GRCm38)		probably benign	Het
Fam217b	T	C	2: 178,420,989 (GRCm38)	S249P	probably benign	Het
Fam219b	A	G	9: 57,538,016 (GRCm38)		probably benign	Het
Fryl	A	T	5: 73,089,081 (GRCm38)		probably benign	Het
Gm14496	T	C	2: 181,996,266 (GRCm38)	W378R	probably damaging	Het
Gm57858	A	G	3: 36,020,213 (GRCm38)		probably benign	Het
Gm8674	A	T	13: 49,904,575 (GRCm38)		noncoding transcript	Het
Grap	T	A	11: 61,660,239 (GRCm38)	D32E	possibly damaging	Het
Grk2	C	A	19: 4,289,357 (GRCm38)	L428F	probably damaging	Het
Grm8	T	A	6: 27,363,179 (GRCm38)	E779V	probably damaging	Het
Hipk1	A	G	3: 103,754,296 (GRCm38)	S670P	probably damaging	Het
Ilrun	A	T	17: 27,786,138 (GRCm38)	S148R	probably damaging	Het
Itgae	A	T	11: 73,129,206 (GRCm38)	M845L	probably benign	Het
Itih1	A	T	14: 30,941,555 (GRCm38)	V164E	probably damaging	Het
Itpka	T	A	2: 119,750,831 (GRCm38)	N448K	probably damaging	Het
Jak3	A	C	8: 71,683,978 (GRCm38)	N643T	probably damaging	Het
Lrfn5	A	C	12: 61,839,668 (GRCm38)	T81P	probably damaging	Het
Lrrc45	T	A	11: 120,718,193 (GRCm38)		probably null	Het
Marchf6	T	C	15: 31,480,291 (GRCm38)	Y562C	probably benign	Het
Meis1	G	A	11: 18,881,767 (GRCm38)	H424Y	possibly damaging	Het
Mst1r	G	A	9: 107,913,167 (GRCm38)	V660I	probably benign	Het
Mst1r	A	G	9: 107,914,776 (GRCm38)	N837S	probably benign	Het
Mthfd2l	T	C	5: 90,946,942 (GRCm38)	V90A	probably damaging	Het
Mtnr1a	A	T	8: 45,087,937 (GRCm38)	I312F	probably benign	Het
Or10g3b	T	C	14: 52,349,378 (GRCm38)	I223V	probably benign	Het
Or51g1	C	A	7: 102,984,836 (GRCm38)	L109F	possibly damaging	Het
Or8b12b	T	C	9: 37,773,076 (GRCm38)	V139A	probably benign	Het
Otog	C	T	7: 46,269,362 (GRCm38)	T954I	possibly damaging	Het
Pdcd6	A	G	13: 74,316,324 (GRCm38)		probably benign	Het
Phlpp2	A	G	8: 109,937,106 (GRCm38)	T926A	probably damaging	Het
Plec	GGCAGCAG	GGCAGCAGCAG	15: 76,181,907 (GRCm38)		probably benign	Het
Plekha5	T	A	6: 140,589,634 (GRCm38)		probably benign	Het
Ppp1r16a	C	T	15: 76,693,669 (GRCm38)	Q328*	probably null	Het
Pramel18	G	A	4: 101,910,097 (GRCm38)	C181Y	probably damaging	Het
Pramel23	A	T	4: 143,698,486 (GRCm38)	M129K	probably benign	Het
Rab27b	T	C	18: 69,987,041 (GRCm38)		probably benign	Het
Rapsn	T	C	2: 91,036,808 (GRCm38)	Y152H	probably damaging	Het
Rasd1	A	T	11: 59,964,553 (GRCm38)	F85I	probably damaging	Het
Rgs1	A	T	1: 144,247,933 (GRCm38)	S85T	probably damaging	Het
Samd9l	T	C	6: 3,372,725 (GRCm38)	E1512G	possibly damaging	Het
Sgsm1	C	T	5: 113,279,184 (GRCm38)	A127T	probably benign	Het
Shc1	A	G	3: 89,422,969 (GRCm38)	D70G	probably damaging	Het
Slc26a1	T	A	5: 108,673,523 (GRCm38)	T167S	probably benign	Het
Slc26a7	A	T	4: 14,593,873 (GRCm38)	Y81N	probably damaging	Het
Slc2a12	T	C	10: 22,702,016 (GRCm38)		probably benign	Het
Slc30a7	T	A	3: 115,990,140 (GRCm38)		probably null	Het
Slc44a5	T	C	3: 154,265,474 (GRCm38)	S654P	probably damaging	Het
Stard9	T	G	2: 120,696,999 (GRCm38)	S1246A	possibly damaging	Het
Stxbp5	A	T	10: 9,865,099 (GRCm38)	S116R	probably damaging	Het
Syvn1	C	T	19: 6,052,453 (GRCm38)	P517L	probably benign	Het
Tas2r105	T	C	6: 131,687,430 (GRCm38)	I12V	probably benign	Het
Tas2r121	A	G	6: 132,700,362 (GRCm38)	S216P	probably damaging	Het
Tcof1	T	C	18: 60,845,832 (GRCm38)	D48G	probably damaging	Het
Tgm3	C	T	2: 130,026,682 (GRCm38)		probably benign	Het
Tle2	T	C	10: 81,588,947 (GRCm38)	F667L	probably damaging	Het
Tnfaip3	C	A	10: 19,002,949 (GRCm38)	A704S	probably benign	Het
Trabd2b	A	G	4: 114,580,322 (GRCm38)	Q232R	probably benign	Het
Ttc28	T	A	5: 111,231,081 (GRCm38)	I1144N	probably damaging	Het
Ucp3	T	A	7: 100,479,541 (GRCm38)	C25*	probably null	Het
Ugt3a2	A	G	15: 9,370,150 (GRCm38)	D460G	probably damaging	Het
Urb1	T	C	16: 90,795,448 (GRCm38)	D308G	possibly damaging	Het
Ush1g	G	T	11: 115,318,868 (GRCm38)	R167S	possibly damaging	Het
Vav3	A	G	3: 109,647,679 (GRCm38)	N81S	possibly damaging	Het
Vmn2r108	A	T	17: 20,471,459 (GRCm38)	D267E	probably benign	Het
Zng1	A	G	19: 24,940,839 (GRCm38)		probably benign	Het

Other mutations in Mcrs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01322:Mcrs1	APN	15	99,243,385 (GRCm38)	missense	probably damaging	0.97
IGL01338:Mcrs1	APN	15	99,249,501 (GRCm38)	missense	probably damaging	1.00
IGL01975:Mcrs1	APN	15	99,243,678 (GRCm38)	critical splice donor site	probably null
PIT4651001:Mcrs1	UTSW	15	99,246,951 (GRCm38)	missense	probably damaging	1.00
R0125:Mcrs1	UTSW	15	99,244,727 (GRCm38)	unclassified	probably benign
R0520:Mcrs1	UTSW	15	99,248,455 (GRCm38)	splice site	probably null
R0744:Mcrs1	UTSW	15	99,243,449 (GRCm38)	unclassified	probably benign
R0836:Mcrs1	UTSW	15	99,243,449 (GRCm38)	unclassified	probably benign
R2099:Mcrs1	UTSW	15	99,249,946 (GRCm38)	missense	probably benign	0.00
R2133:Mcrs1	UTSW	15	99,243,375 (GRCm38)	missense	probably damaging	1.00
R4557:Mcrs1	UTSW	15	99,243,147 (GRCm38)	missense	probably benign	0.01
R5425:Mcrs1	UTSW	15	99,243,688 (GRCm38)	missense	probably damaging	1.00
R5517:Mcrs1	UTSW	15	99,246,995 (GRCm38)	missense	possibly damaging	0.88
R7129:Mcrs1	UTSW	15	99,248,728 (GRCm38)	missense	probably damaging	1.00
R8012:Mcrs1	UTSW	15	99,249,885 (GRCm38)	missense	probably damaging	1.00
R8015:Mcrs1	UTSW	15	99,248,854 (GRCm38)	nonsense	probably null
R8025:Mcrs1	UTSW	15	99,246,933 (GRCm38)	nonsense	probably null
R8171:Mcrs1	UTSW	15	99,248,732 (GRCm38)	missense	probably damaging	1.00
R8191:Mcrs1	UTSW	15	99,243,325 (GRCm38)	missense	probably damaging	1.00
R8420:Mcrs1	UTSW	15	99,243,694 (GRCm38)	missense	probably damaging	1.00
R8486:Mcrs1	UTSW	15	99,248,468 (GRCm38)	nonsense	probably null
R8777:Mcrs1	UTSW	15	99,243,356 (GRCm38)	missense	probably damaging	1.00
R8777-TAIL:Mcrs1	UTSW	15	99,243,356 (GRCm38)	missense	probably damaging	1.00
R9626:Mcrs1	UTSW	15	99,248,472 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAGAATGCCCTGGTTTCTGCTAC -3'
(R):5'- AAGATCTCCCGAAAGCAAGGTGTG -3'

Sequencing Primer
(F):5'- TGATCTTGGCAGCCTCAGC -3'
(R):5'- AGCTCCTCTGAGCCCTAAG -3'

Posted On

2013-10-16