Mutagenetix > Incidental Mutation

Incidental Mutation 'R7090:Shroom1'

550164

Institutional Source

Beutler Lab

Gene Symbol

Shroom1

Ensembl Gene

ENSMUSG00000018387

Gene Name

shroom family member 1

Synonyms

Shrm1, Apx, 1300007L22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7090 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53457205-53467766 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53465933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 541 (E541G)

Ref Sequence

ENSEMBL: ENSMUSP00000104641 (fasta)

Gene Model

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

AlphaFold

Q5SX79

Predicted Effect

probably damaging
Transcript: ENSMUST00000018531
AA Change: E478G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018531
Gene: ENSMUSG00000018387
AA Change: E478G

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 damaging
Transcript: ENSMUST00000093114
AA Change: E541G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: E541G

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

probably damaging
Transcript: ENSMUST00000109013
AA Change: E541G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: E541G

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

Meta Mutation Damage Score

0.6712

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calm3	A	T	7: 16,917,079	Y139*	probably null	Het
Ccdc27	T	C	4: 154,028,066	N584S	probably benign	Het
Cdh24	C	G	14: 54,639,507	G13A	probably damaging	Het
Chd8	T	C	14: 52,215,220	K1281E	probably damaging	Het
Clasp1	G	T	1: 118,482,086	G4C	probably benign	Het
Cul9	G	T	17: 46,500,839	P2488T	probably damaging	Het
Daam2	A	G	17: 49,482,945	V428A	probably damaging	Het
Dcaf8	A	G	1: 172,188,968	S441G	probably damaging	Het
Dchs2	A	G	3: 83,348,274	T2426A	probably benign	Het
Dpys	A	G	15: 39,826,883	V358A	probably damaging	Het
Efhd1	A	G	1: 87,289,497	D112G	probably damaging	Het
Exoc1	T	C	5: 76,566,953	S120P	unknown	Het
Fyco1	A	G	9: 123,797,719	L1309S	probably damaging	Het
Gm14403	A	G	2: 177,509,321	N111S	possibly damaging	Het
Gm5901	A	G	7: 105,377,348	T108A	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Itgb5	T	G	16: 33,885,094	D251E	probably damaging	Het
Kcnk15	T	C	2: 163,858,717	V292A	probably benign	Het
Kdm2a	A	T	19: 4,319,141	Y1149N	probably damaging	Het
Kdm3a	T	C	6: 71,595,545	T1011A	possibly damaging	Het
Krt35	A	T	11: 100,095,672		probably null	Het
Lipn	T	A	19: 34,071,780	D115E	possibly damaging	Het
Lpin3	T	G	2: 160,896,752	L208R	probably damaging	Het
Ltf	C	A	9: 111,025,980	Q354K	probably benign	Het
Marf1	C	A	16: 14,111,702	C1680F	possibly damaging	Het
Mtss1l	T	A	8: 110,730,024	V242E	probably damaging	Het
Myo7b	T	C	18: 31,998,712	Y477C	probably damaging	Het
Nbn	T	A	4: 15,981,350	S481T	probably benign	Het
Ncoa2	A	G	1: 13,186,838	Y146H	probably damaging	Het
Ntng1	A	T	3: 109,935,180	C92*	probably null	Het
Olfr1049	T	A	2: 86,255,076	N206Y	probably damaging	Het
Olfr1077-ps1	T	C	2: 86,526,127	I17V	probably benign	Het
Olfr133	G	A	17: 38,149,494	G302D	probably benign	Het
Olfr286	C	T	15: 98,227,202	V150I	probably benign	Het
Os9	A	T	10: 127,099,678	S308T	probably benign	Het
Otx2	T	A	14: 48,658,735	T289S	probably benign	Het
Palm2	C	T	4: 57,648,042	A60V	probably benign	Het
Pigg	A	G	5: 108,336,512	T675A	possibly damaging	Het
Pink1	C	T	4: 138,315,601	E461K	probably damaging	Het
Pip5k1a	A	G	3: 95,060,498	S543P	possibly damaging	Het
Prkaa1	A	G	15: 5,177,130	T454A	probably benign	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rab31	C	T	17: 65,698,017	V83I	possibly damaging	Het
Rabggtb	G	T	3: 153,910,349	D117E	probably benign	Het
Rbl1	T	C	2: 157,152,900	H951R	probably benign	Het
Sapcd2	A	G	2: 25,376,079	S314G	probably benign	Het
Sept4	T	C	11: 87,584,438	L164P	probably damaging	Het
Slc26a7	C	A	4: 14,565,460	G208*	probably null	Het
Smco2	A	G	6: 146,871,213	I304M	probably damaging	Het
Spg7	T	C	8: 123,091,752		probably null	Het
Spocd1	T	C	4: 129,953,898	F552L		Het
St6galnac2	T	C	11: 116,677,635	D334G	probably damaging	Het
Sub1	A	G	15: 11,986,486	S92P	probably benign	Het
Syne2	T	C	12: 75,942,351	F1829L	probably benign	Het
Tdrd1	T	C	19: 56,851,401	V631A	probably benign	Het
Tdrd9	T	C	12: 111,992,470	S113P	probably benign	Het
Tgfbrap1	A	C	1: 43,071,565	V260G	probably damaging	Het
Tyw3	G	C	3: 154,593,789	S94R	probably benign	Het
Urb2	T	C	8: 124,030,599	V1015A	probably benign	Het
Usp5	A	G	6: 124,829,394	M1T	probably null	Het
Utrn	T	C	10: 12,684,516	D1343G	possibly damaging	Het
Vmn2r56	T	C	7: 12,715,327	Y328C	probably damaging	Het
Vmn2r99	A	T	17: 19,393,710	E564V	possibly damaging	Het
Wdr63	C	A	3: 146,040,827	K881N	possibly damaging	Het
Zc3h8	T	C	2: 128,935,321	T133A	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
IGL00985:Shroom1	APN	11	53465969	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGACCTTCAGACTCTGAGACTCC -3'
(R):5'- TCTTGGGAAGTCTGCAGGTC -3'

Sequencing Primer
(F):5'- TCTGAGACTCCAGGGTCCC -3'
(R):5'- TGGTGTCCACAAGACCTGAG -3'

Posted On

2019-05-15