Mutagenetix > Incidental Mutation

Incidental Mutation 'R8971:Shroom1'

683110

Institutional Source

Beutler Lab

Gene Symbol

Shroom1

Ensembl Gene

ENSMUSG00000018387

Gene Name

shroom family member 1

Synonyms

1300007L22Rik, Shrm1, Apx

MMRRC Submission

068805-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R8971 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53348032-53358593 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53355994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 348 (L348H)

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

probably damaging
Transcript: ENSMUST00000093114
AA Change: L348H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000090802
Gene: ENSMUSG00000018387
AA Change: L348H

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: L348H

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104641
Gene: ENSMUSG00000018387
AA Change: L348H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	T	C	14: 34,236,383 (GRCm39)	H44R	unknown	Het
Acp6	C	T	3: 97,078,961 (GRCm39)	H254Y	probably damaging	Het
Acvrl1	A	G	15: 101,033,404 (GRCm39)	N97S	possibly damaging	Het
Afm	T	A	5: 90,696,675 (GRCm39)	V455E	probably damaging	Het
Ankrd44	G	T	1: 54,692,952 (GRCm39)	D927E	probably benign	Het
Ap2a2	T	C	7: 141,191,258 (GRCm39)	V275A	probably benign	Het
Arfgef2	A	T	2: 166,701,221 (GRCm39)	Q673L	probably damaging	Het
Atp6v0a2	T	C	5: 124,797,061 (GRCm39)	F814L	probably damaging	Het
Axdnd1	G	A	1: 156,219,516 (GRCm39)	A193V		Het
Bicra	T	A	7: 15,721,481 (GRCm39)	I679L	probably benign	Het
Ccm2l	G	A	2: 152,909,756 (GRCm39)	R36H	probably damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Cela3a	C	T	4: 137,133,222 (GRCm39)	G50D	probably benign	Het
Cep152	T	A	2: 125,421,770 (GRCm39)	R987*	probably null	Het
Cnnm2	T	C	19: 46,845,362 (GRCm39)	V618A	probably benign	Het
Crim1	G	A	17: 78,653,409 (GRCm39)	R593Q	possibly damaging	Het
Ctsc	A	G	7: 87,959,024 (GRCm39)	S435G	probably benign	Het
Dcbld1	G	T	10: 52,195,958 (GRCm39)	A460S	probably benign	Het
Dcbld2	A	G	16: 58,276,715 (GRCm39)	E502G	probably benign	Het
Dhx30	A	T	9: 109,913,513 (GRCm39)	L1207*	probably null	Het
Dlx2	A	T	2: 71,376,716 (GRCm39)	S7R	possibly damaging	Het
Dmwd	T	A	7: 18,814,973 (GRCm39)	I541N	probably damaging	Het
Dmxl1	T	G	18: 49,997,575 (GRCm39)	L588V	possibly damaging	Het
Dmxl1	C	T	18: 50,026,741 (GRCm39)	P1950S	probably damaging	Het
Dnhd1	T	A	7: 105,358,528 (GRCm39)	L3339*	probably null	Het
Elovl1	C	A	4: 118,288,709 (GRCm39)	P160Q	probably damaging	Het
Epg5	T	A	18: 78,022,434 (GRCm39)	L1059Q	probably damaging	Het
Fam149b	C	T	14: 20,402,777 (GRCm39)	S53F	probably benign	Het
Fat1	T	A	8: 45,495,331 (GRCm39)	C4140S	probably damaging	Het
Gria2	C	T	3: 80,615,200 (GRCm39)	V427I	probably damaging	Het
H2al2a	C	A	2: 18,001,537 (GRCm39)	A50S	probably damaging	Het
Hspbp1	T	C	7: 4,684,858 (GRCm39)	M132V	possibly damaging	Het
Igsf9	C	T	1: 172,312,033 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Katnb1	G	A	8: 95,822,987 (GRCm39)	R394Q	probably damaging	Het
Kif1b	A	T	4: 149,332,273 (GRCm39)	D553E	probably damaging	Het
Kif3a	T	A	11: 53,474,189 (GRCm39)	L251Q	probably damaging	Het
Klb	T	A	5: 65,533,026 (GRCm39)	I445K	probably damaging	Het
Klhl29	T	A	12: 5,190,710 (GRCm39)		probably null	Het
Lipf	A	G	19: 33,942,273 (GRCm39)	K68E	probably benign	Het
Lnx2	T	A	5: 146,970,236 (GRCm39)	I169L	probably benign	Het
Lrba	A	C	3: 86,522,388 (GRCm39)	I2223L	probably benign	Het
Lrp1	C	T	10: 127,391,896 (GRCm39)	D2890N	possibly damaging	Het
Lrp1b	T	C	2: 41,325,640 (GRCm39)	T926A		Het
Lrrc37a	T	A	11: 103,391,490 (GRCm39)	I1312F	probably benign	Het
Lrrc71	T	C	3: 87,647,153 (GRCm39)	H477R	possibly damaging	Het
Lrrc8e	T	C	8: 4,284,141 (GRCm39)	V122A	probably damaging	Het
Lsm14b	T	C	2: 179,667,107 (GRCm39)		probably null	Het
Magel2	A	C	7: 62,029,999 (GRCm39)	I968L	unknown	Het
Mapkbp1	T	C	2: 119,850,050 (GRCm39)	V771A	probably benign	Het
Mtmr4	T	C	11: 87,493,626 (GRCm39)	S295P	probably benign	Het
Nanos3	T	A	8: 84,902,815 (GRCm39)	T116S	probably benign	Het
Nectin3	T	C	16: 46,269,265 (GRCm39)	D379G	probably benign	Het
Nelfa	T	C	5: 34,093,539 (GRCm39)	H14R	possibly damaging	Het
Nnt	A	G	13: 119,502,967 (GRCm39)	W593R	unknown	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Or4c115	T	A	2: 88,927,891 (GRCm39)	K127*	probably null	Het
Or52p1	A	T	7: 104,267,467 (GRCm39)	T194S	probably damaging	Het
Or5m13b	T	C	2: 85,754,328 (GRCm39)	S239P	probably damaging	Het
Or5w22	T	A	2: 87,362,580 (GRCm39)	C68S	probably benign	Het
Or6f1	T	A	7: 85,970,369 (GRCm39)	I264F	possibly damaging	Het
Palld	A	T	8: 61,969,735 (GRCm39)	D1196E	unknown	Het
Parl	A	G	16: 20,116,909 (GRCm39)	L96P	probably damaging	Het
Pip4k2a	T	C	2: 18,852,367 (GRCm39)	D305G	probably benign	Het
Pkhd1l1	T	C	15: 44,392,915 (GRCm39)	V1750A	possibly damaging	Het
Prkdc	A	G	16: 15,493,229 (GRCm39)	E712G	probably null	Het
Rasgrf2	T	C	13: 92,158,225 (GRCm39)	E532G	possibly damaging	Het
Rbp3	T	A	14: 33,677,792 (GRCm39)	L580Q	probably damaging	Het
Ribc2	G	T	15: 85,016,337 (GRCm39)		probably benign	Het
Rmnd5b	T	C	11: 51,515,322 (GRCm39)	S315G	probably benign	Het
Rp1l1	T	A	14: 64,259,445 (GRCm39)	V29E	probably damaging	Het
Sclt1	T	C	3: 41,681,541 (GRCm39)	T93A	probably benign	Het
Slc13a1	T	C	6: 24,090,785 (GRCm39)	K545E	probably benign	Het
Slc20a2	C	T	8: 23,030,396 (GRCm39)	P151S	probably damaging	Het
Slc22a4	T	C	11: 53,879,718 (GRCm39)	Y447C	probably damaging	Het
Slu7	C	A	11: 43,333,480 (GRCm39)	Q367K	probably benign	Het
Spen	T	C	4: 141,201,889 (GRCm39)	N2246S	possibly damaging	Het
Tac4	T	G	11: 95,156,045 (GRCm39)	I42S	possibly damaging	Het
Tmem87a	A	G	2: 120,190,541 (GRCm39)	V530A		Het
Tnrc6c	T	C	11: 117,640,089 (GRCm39)	I1208T	possibly damaging	Het
Vmn1r230	C	T	17: 21,067,321 (GRCm39)	T170I	possibly damaging	Het
Vps29	A	G	5: 122,498,212 (GRCm39)	D51G	probably benign	Het
Washc2	T	C	6: 116,231,399 (GRCm39)	L874P	probably damaging	Het
Wdr5b	T	C	16: 35,861,926 (GRCm39)	L15P	probably benign	Het
Zscan20	T	A	4: 128,479,847 (GRCm39)	Q881H	probably damaging	Het
Zscan20	T	G	4: 128,479,848 (GRCm39)	Q881P	probably damaging	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
R0357:Shroom1	UTSW	11	53,356,035 (GRCm39)	missense	probably damaging	0.96
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
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'- ACAGTCTACGTGCCTCAGTC -3'
(R):5'- ATTACCTGAGAGAGTTCCCAGC -3'

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

Posted On

2021-10-11