Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:Shroom1'

29893

Institutional Source

Beutler Lab

Gene Symbol

Shroom1

Ensembl Gene

ENSMUSG00000018387

Gene Name

shroom family member 1

Synonyms

1300007L22Rik, Shrm1, Apx

MMRRC Submission

038563-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53348032-53358593 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53356035 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 362 (T362A)

Ref Sequence

ENSEMBL: ENSMUSP00000104641 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018531] [ENSMUST00000057722] [ENSMUST00000093114] [ENSMUST00000109013]

AlphaFold

Q5SX79

Predicted Effect

probably benign
Transcript: ENSMUST00000018531

SMART Domains

Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387

Domain	Start	End	E-Value	Type
Pfam:ASD1	108	269	1.1e-21	PFAM
low complexity region	410	417	N/A	INTRINSIC
Pfam:ASD2	454	732	4.4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057722

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093114
AA Change: T362A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: T362A

Domain	Start	End	E-Value	Type
Pfam:ASD1	108	269	3.7e-22	PFAM
low complexity region	473	480	N/A	INTRINSIC
Pfam:ASD2	517	715	1e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000109010

Predicted Effect

probably damaging
Transcript: ENSMUST00000109013
AA Change: T362A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: T362A

Domain	Start	End	E-Value	Type
Pfam:ASD1	114	269	4.2e-19	PFAM
low complexity region	473	480	N/A	INTRINSIC
Pfam:ASD2	518	795	2.4e-77	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141032

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155297

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SHROOM family members play diverse roles in the development of the nervous system and other tissues (Hagens et al., 2006 [PubMed 16615870]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	C	5: 24,778,463 (GRCm39)	K232E	probably benign	Het
AI837181	C	T	19: 5,476,731 (GRCm39)	T298I	possibly damaging	Het
Alox12	T	C	11: 70,133,362 (GRCm39)	Y614C	probably damaging	Het
Amn	A	T	12: 111,240,575 (GRCm39)		probably null	Het
Ankrd33b	A	G	15: 31,305,272 (GRCm39)	S121P	probably benign	Het
Aox1	A	G	1: 58,131,675 (GRCm39)	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314 (GRCm39)	R736L	probably benign	Het
Atp2a3	G	A	11: 72,861,757 (GRCm39)		probably null	Het
Cables2	T	C	2: 179,904,025 (GRCm39)		probably benign	Het
Catsperg2	A	T	7: 29,414,326 (GRCm39)	Y360N	possibly damaging	Het
Cdh4	T	C	2: 179,489,133 (GRCm39)	S282P	probably damaging	Het
Col5a3	C	T	9: 20,719,064 (GRCm39)		probably benign	Het
Ctso	A	T	3: 81,858,850 (GRCm39)		probably benign	Het
Cyp4f13	A	T	17: 33,151,625 (GRCm39)	Y125*	probably null	Het
Dapk1	T	A	13: 60,877,372 (GRCm39)	L537*	probably null	Het
Ddit4l	G	A	3: 137,331,946 (GRCm39)	R104Q	probably benign	Het
Def6	C	T	17: 28,442,909 (GRCm39)	H322Y	probably damaging	Het
Dnaaf9	A	T	2: 130,554,866 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,165,342 (GRCm39)	N588D	probably benign	Het
Dzip1	T	A	14: 119,146,950 (GRCm39)	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,536,934 (GRCm39)	H319R	probably damaging	Het
Erc2	A	G	14: 27,498,979 (GRCm39)	E285G	probably damaging	Het
Fat4	G	A	3: 38,945,376 (GRCm39)	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,839 (GRCm39)	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,762 (GRCm39)	A126T	probably damaging	Het
Gbp5	G	A	3: 142,211,172 (GRCm39)	D301N	probably benign	Het
Gm10360	T	C	6: 70,401,297 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,387,604 (GRCm39)		noncoding transcript	Het
Gm8674	T	A	13: 50,056,149 (GRCm39)		noncoding transcript	Het
H2bc18	A	C	3: 96,177,104 (GRCm39)	K13Q	probably null	Het
Ift172	A	G	5: 31,415,244 (GRCm39)	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,821,986 (GRCm39)	Y686*	probably null	Het
Insrr	A	C	3: 87,715,953 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,945,019 (GRCm39)	M580K	probably benign	Het
Krt87	C	T	15: 101,384,900 (GRCm39)	V399M	probably benign	Het
Macf1	T	C	4: 123,351,776 (GRCm39)	N3708S	probably damaging	Het
Matcap1	A	T	8: 106,011,699 (GRCm39)	V222E	probably damaging	Het
Mogat1	T	C	1: 78,488,677 (GRCm39)	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,631,574 (GRCm39)	M9K	probably benign	Het
Mtus1	A	T	8: 41,536,563 (GRCm39)	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,546,771 (GRCm39)	M306K	probably benign	Het
Noxa1	G	T	2: 24,975,862 (GRCm39)	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or10ak12	A	C	4: 118,666,614 (GRCm39)	L149R	probably damaging	Het
Or2y1f	A	G	11: 49,184,613 (GRCm39)	N155S	probably damaging	Het
Or6k4	T	A	1: 173,964,865 (GRCm39)	L185*	probably null	Het
Or6n1	T	C	1: 173,916,675 (GRCm39)	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,963,621 (GRCm39)		probably benign	Het
Paxx	T	A	2: 25,350,079 (GRCm39)	E145D	probably damaging	Het
Pde4d	T	C	13: 110,087,802 (GRCm39)	V560A	possibly damaging	Het
Pheta2	C	T	15: 82,227,517 (GRCm39)	A12V	probably damaging	Het
Plxnd1	C	T	6: 115,946,421 (GRCm39)	V847M	probably benign	Het
Polk	T	A	13: 96,641,105 (GRCm39)	M151L	probably damaging	Het
Ptprq	C	T	10: 107,522,060 (GRCm39)		probably benign	Het
Pum2	A	G	12: 8,771,785 (GRCm39)	Q371R	possibly damaging	Het
Reln	G	A	5: 22,155,820 (GRCm39)	A2224V	probably damaging	Het
Rmc1	T	C	18: 12,312,266 (GRCm39)	S169P	possibly damaging	Het
Scart1	T	G	7: 139,807,808 (GRCm39)	C660G	probably damaging	Het
Smarcd2	A	G	11: 106,158,158 (GRCm39)		probably null	Het
Spg11	A	C	2: 121,896,713 (GRCm39)		probably benign	Het
Tcaf3	T	A	6: 42,566,761 (GRCm39)	Y776F	probably damaging	Het
Thada	A	G	17: 84,538,364 (GRCm39)	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,481,130 (GRCm39)	P410S	probably damaging	Het
Ube2u	G	T	4: 100,338,851 (GRCm39)	E39*	probably null	Het
Ulbp3	A	T	10: 3,070,307 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,075,788 (GRCm39)		noncoding transcript	Het
Vmn2r2	C	T	3: 64,041,320 (GRCm39)		probably null	Het
Vmn2r24	TCC	TC	6: 123,792,369 (GRCm39)		probably null	Het
Wdr87-ps	A	T	7: 29,235,007 (GRCm39)		noncoding transcript	Het
Zfp110	A	G	7: 12,570,302 (GRCm39)	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,272,245 (GRCm39)	T55A	probably benign	Het

Other mutations in Shroom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Shroom1	APN	11	53,354,921 (GRCm39)	missense	probably benign	0.00
IGL00985:Shroom1	APN	11	53,356,796 (GRCm39)	missense	probably benign
IGL01111:Shroom1	APN	11	53,354,875 (GRCm39)	missense	probably damaging	0.98
IGL01316:Shroom1	APN	11	53,356,385 (GRCm39)	missense	probably damaging	0.99
IGL02512:Shroom1	APN	11	53,357,386 (GRCm39)	missense	probably damaging	1.00
IGL03062:Shroom1	APN	11	53,354,206 (GRCm39)	missense	probably benign
bracket	UTSW	11	53,354,809 (GRCm39)	nonsense	probably null
shitake	UTSW	11	53,356,549 (GRCm39)	missense	possibly damaging	0.91
R0083:Shroom1	UTSW	11	53,357,764 (GRCm39)	missense	possibly damaging	0.93
R0108:Shroom1	UTSW	11	53,357,764 (GRCm39)	missense	possibly damaging	0.93
R0108:Shroom1	UTSW	11	53,357,764 (GRCm39)	missense	possibly damaging	0.93
R0242:Shroom1	UTSW	11	53,356,312 (GRCm39)	splice site	probably null
R0242:Shroom1	UTSW	11	53,356,312 (GRCm39)	splice site	probably null
R0661:Shroom1	UTSW	11	53,357,764 (GRCm39)	missense	possibly damaging	0.93
R1875:Shroom1	UTSW	11	53,356,502 (GRCm39)	missense	probably damaging	0.99
R2356:Shroom1	UTSW	11	53,357,274 (GRCm39)	missense	probably benign	0.05
R4657:Shroom1	UTSW	11	53,356,415 (GRCm39)	missense	possibly damaging	0.79
R4662:Shroom1	UTSW	11	53,357,289 (GRCm39)	missense	possibly damaging	0.64
R4690:Shroom1	UTSW	11	53,356,549 (GRCm39)	missense	possibly damaging	0.91
R4734:Shroom1	UTSW	11	53,356,060 (GRCm39)	missense	probably damaging	1.00
R4820:Shroom1	UTSW	11	53,355,966 (GRCm39)	missense	probably benign	0.07
R4964:Shroom1	UTSW	11	53,355,999 (GRCm39)	missense	probably benign
R5000:Shroom1	UTSW	11	53,357,944 (GRCm39)	utr 3 prime	probably benign
R5046:Shroom1	UTSW	11	53,354,872 (GRCm39)	missense	probably benign	0.00
R5141:Shroom1	UTSW	11	53,354,809 (GRCm39)	nonsense	probably null
R5256:Shroom1	UTSW	11	53,356,334 (GRCm39)	missense	probably benign	0.32
R5273:Shroom1	UTSW	11	53,354,671 (GRCm39)	missense	possibly damaging	0.82
R5529:Shroom1	UTSW	11	53,354,749 (GRCm39)	missense	probably damaging	1.00
R5762:Shroom1	UTSW	11	53,354,818 (GRCm39)	missense	probably benign	0.00
R6058:Shroom1	UTSW	11	53,354,308 (GRCm39)	missense	possibly damaging	0.83
R6408:Shroom1	UTSW	11	53,354,214 (GRCm39)	missense	probably benign	0.00
R6677:Shroom1	UTSW	11	53,354,343 (GRCm39)	missense	possibly damaging	0.85
R7090:Shroom1	UTSW	11	53,356,760 (GRCm39)	missense	probably damaging	1.00
R7369:Shroom1	UTSW	11	53,356,075 (GRCm39)	missense	probably benign	0.43
R7654:Shroom1	UTSW	11	53,357,735 (GRCm39)	missense	probably benign	0.02
R7919:Shroom1	UTSW	11	53,354,220 (GRCm39)	missense	probably benign	0.17
R7964:Shroom1	UTSW	11	53,355,149 (GRCm39)	missense	possibly damaging	0.94
R8338:Shroom1	UTSW	11	53,354,107 (GRCm39)	missense	probably benign	0.08
R8365:Shroom1	UTSW	11	53,356,468 (GRCm39)	nonsense	probably null
R8386:Shroom1	UTSW	11	53,357,230 (GRCm39)	missense	probably damaging	1.00
R8971:Shroom1	UTSW	11	53,355,994 (GRCm39)	missense	probably damaging	0.99
R9116:Shroom1	UTSW	11	53,354,490 (GRCm39)	missense	probably damaging	1.00
R9392:Shroom1	UTSW	11	53,354,674 (GRCm39)	missense	possibly damaging	0.91
R9410:Shroom1	UTSW	11	53,354,217 (GRCm39)	missense	probably damaging	1.00
R9577:Shroom1	UTSW	11	53,357,612 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TACGTGCCTCAGTCTGAGACTTCC -3'
(R):5'- CAACACCTGGGCATTACCTGAGAG -3'

Sequencing Primer
(F):5'- TCAGTCTGAGACTTCCGACAG -3'
(R):5'- GCATTACCTGAGAGAGTTCCCAG -3'

Posted On

2013-04-24