Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00985:Shroom1'

28671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shroom1

Ensembl Gene

ENSMUSG00000018387

Gene Name

shroom family member 1

Synonyms

Shrm1, Apx, 1300007L22Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL00985

Quality Score

Status

Chromosome

Chromosomal Location

53457205-53467766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53465969 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 553 (V553A)

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
AA Change: V490A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387
AA Change: V490A

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

probably benign
Transcript: ENSMUST00000093114
AA Change: V553A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: V553A

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 benign
Transcript: ENSMUST00000109013
AA Change: V553A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: V553A

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

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630091E08Rik	G	T	7: 98,543,918		noncoding transcript	Het
Abca15	G	A	7: 120,397,018	G1389E	probably damaging	Het
Adcy3	T	C	12: 4,134,600	V92A	probably damaging	Het
Aplnr	A	T	2: 85,137,663	Y344F	probably benign	Het
Atm	A	T	9: 53,459,816	V2241E	probably damaging	Het
Cep290	T	C	10: 100,567,161		probably benign	Het
Cnpy1	A	T	5: 28,209,154	Y91*	probably null	Het
Cobl	C	A	11: 12,254,843	G613W	probably damaging	Het
Csn1s2a	T	C	5: 87,784,580	S121P	possibly damaging	Het
Doxl2	A	G	6: 48,977,547	S540G	probably benign	Het
Fam129c	T	C	8: 71,604,863		probably benign	Het
Fam198a	T	C	9: 121,978,335	L515P	probably damaging	Het
Flg2	A	T	3: 93,203,278	Y871F	unknown	Het
Gapvd1	T	A	2: 34,695,563	D1008V	probably damaging	Het
Igfl3	T	C	7: 18,180,075		probably null	Het
Kmt2b	A	T	7: 30,579,927	V1470E	probably damaging	Het
Mcc	A	T	18: 44,491,239	L413Q	probably damaging	Het
Mia2	G	A	12: 59,188,360	G610D	probably damaging	Het
Mlst8	A	T	17: 24,477,313	D147E	probably damaging	Het
Muc19	G	T	15: 91,886,749		noncoding transcript	Het
Mybpc3	A	G	2: 91,135,359	E1172G	probably benign	Het
Nop14	A	T	5: 34,644,789	L557Q	probably damaging	Het
P3h3	T	C	6: 124,845,589	T540A	probably benign	Het
Phc3	T	A	3: 30,914,197	I897F	probably benign	Het
Plekhh2	G	A	17: 84,563,928	V205I	probably benign	Het
Poc5	A	G	13: 96,410,746	K506E	probably damaging	Het
Pum1	C	A	4: 130,743,789	T450K	probably damaging	Het
Retnlg	G	A	16: 48,874,325	R112H	possibly damaging	Het
Rgl2	T	C	17: 33,932,101	V101A	probably damaging	Het
Serinc5	A	G	13: 92,706,271	T410A	probably damaging	Het
Slco4c1	A	T	1: 96,841,187	W317R	probably damaging	Het
Snap91	T	C	9: 86,821,737	T268A	probably benign	Het
Supt16	T	C	14: 52,161,691	K1044E	possibly damaging	Het
Tarbp1	A	T	8: 126,459,161	L431I	probably damaging	Het
Tas2r124	C	T	6: 132,755,529	T267I	probably benign	Het
Tm7sf3	C	T	6: 146,606,194	V457I	possibly damaging	Het
Tmem132c	A	T	5: 127,504,866	S382C	probably damaging	Het
Tmprss7	C	A	16: 45,662,322	C582F	probably damaging	Het
Tsc2	T	C	17: 24,597,131	E1694G	probably damaging	Het
Txndc2	G	T	17: 65,638,549	S211Y	possibly damaging	Het
Ubr3	A	C	2: 70,003,431	T205P	probably damaging	Het
Vmn2r116	G	A	17: 23,401,515	G741D	probably damaging	Het
Vps8	G	A	16: 21,477,584		probably benign	Het
Wdr19	G	A	5: 65,252,299	D1127N	probably benign	Het
Zim1	T	A	7: 6,682,760	Y83F	possibly damaging	Het

Other mutations in Shroom1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Shroom1	APN	11	53464094	missense	probably benign	0.00
IGL01111:Shroom1	APN	11	53464048	missense	probably damaging	0.98
IGL01316:Shroom1	APN	11	53465558	missense	probably damaging	0.99
IGL02512:Shroom1	APN	11	53466559	missense	probably damaging	1.00
IGL03062:Shroom1	APN	11	53463379	missense	probably benign
bracket	UTSW	11	53463982	nonsense	probably null
shitake	UTSW	11	53465722	missense	possibly damaging	0.91
R0083:Shroom1	UTSW	11	53466937	missense	possibly damaging	0.93
R0108:Shroom1	UTSW	11	53466937	missense	possibly damaging	0.93
R0108:Shroom1	UTSW	11	53466937	missense	possibly damaging	0.93
R0242:Shroom1	UTSW	11	53465485	splice site	probably null
R0242:Shroom1	UTSW	11	53465485	splice site	probably null
R0357:Shroom1	UTSW	11	53465208	missense	probably damaging	0.96
R0661:Shroom1	UTSW	11	53466937	missense	possibly damaging	0.93
R1875:Shroom1	UTSW	11	53465675	missense	probably damaging	0.99
R2356:Shroom1	UTSW	11	53466447	missense	probably benign	0.05
R4657:Shroom1	UTSW	11	53465588	missense	possibly damaging	0.79
R4662:Shroom1	UTSW	11	53466462	missense	possibly damaging	0.64
R4690:Shroom1	UTSW	11	53465722	missense	possibly damaging	0.91
R4734:Shroom1	UTSW	11	53465233	missense	probably damaging	1.00
R4820:Shroom1	UTSW	11	53465139	missense	probably benign	0.07
R4964:Shroom1	UTSW	11	53465172	missense	probably benign
R5000:Shroom1	UTSW	11	53467117	utr 3 prime	probably benign
R5046:Shroom1	UTSW	11	53464045	missense	probably benign	0.00
R5141:Shroom1	UTSW	11	53463982	nonsense	probably null
R5256:Shroom1	UTSW	11	53465507	missense	probably benign	0.32
R5273:Shroom1	UTSW	11	53463844	missense	possibly damaging	0.82
R5529:Shroom1	UTSW	11	53463922	missense	probably damaging	1.00
R5762:Shroom1	UTSW	11	53463991	missense	probably benign	0.00
R6058:Shroom1	UTSW	11	53463481	missense	possibly damaging	0.83
R6408:Shroom1	UTSW	11	53463387	missense	probably benign	0.00
R6677:Shroom1	UTSW	11	53463516	missense	possibly damaging	0.85
R7090:Shroom1	UTSW	11	53465933	missense	probably damaging	1.00
R7369:Shroom1	UTSW	11	53465248	missense	probably benign	0.43
R7654:Shroom1	UTSW	11	53466908	missense	probably benign	0.02
R7919:Shroom1	UTSW	11	53463393	missense	probably benign	0.17
R7964:Shroom1	UTSW	11	53464322	missense	possibly damaging	0.94
R8338:Shroom1	UTSW	11	53463280	missense	probably benign	0.08
R8365:Shroom1	UTSW	11	53465641	nonsense	probably null
R8386:Shroom1	UTSW	11	53466403	missense	probably damaging	1.00
R8971:Shroom1	UTSW	11	53465167	missense	probably damaging	0.99
R9116:Shroom1	UTSW	11	53463663	missense	probably damaging	1.00
R9392:Shroom1	UTSW	11	53463847	missense	possibly damaging	0.91
R9410:Shroom1	UTSW	11	53463390	missense	probably damaging	1.00
R9577:Shroom1	UTSW	11	53466785	missense	probably benign

Posted On

2013-04-17