Mutagenetix > Incidental Mutation

Incidental Mutation 'R9108:Shroom3'

692069

Institutional Source

Beutler Lab

Gene Symbol

Shroom3

Ensembl Gene

ENSMUSG00000029381

Gene Name

shroom family member 3

Synonyms

D5Ertd287e, Shrm3, Shrm

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9108 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92683435-92965318 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92940116 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 242 (S242P)

Ref Sequence

ENSEMBL: ENSMUSP00000108678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113051] [ENSMUST00000113054] [ENSMUST00000113055] [ENSMUST00000168878] [ENSMUST00000172706] [ENSMUST00000225438]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113051
AA Change: S67P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108674
Gene: ENSMUSG00000029381
AA Change: S67P

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
low complexity region	83	93	N/A	INTRINSIC
low complexity region	572	586	N/A	INTRINSIC
low complexity region	621	639	N/A	INTRINSIC
low complexity region	685	704	N/A	INTRINSIC
Pfam:ASD1	706	885	2.3e-65	PFAM
low complexity region	939	952	N/A	INTRINSIC
low complexity region	1132	1143	N/A	INTRINSIC
low complexity region	1172	1184	N/A	INTRINSIC
low complexity region	1274	1288	N/A	INTRINSIC
low complexity region	1333	1345	N/A	INTRINSIC
Pfam:ASD2	1478	1765	3.1e-107	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113054
AA Change: S67P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108677
Gene: ENSMUSG00000029381
AA Change: S67P

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
low complexity region	83	93	N/A	INTRINSIC
low complexity region	572	586	N/A	INTRINSIC
low complexity region	621	639	N/A	INTRINSIC
low complexity region	685	704	N/A	INTRINSIC
Pfam:ASD1	706	885	2.3e-65	PFAM
low complexity region	939	952	N/A	INTRINSIC
low complexity region	1132	1143	N/A	INTRINSIC
low complexity region	1172	1184	N/A	INTRINSIC
low complexity region	1274	1288	N/A	INTRINSIC
low complexity region	1333	1345	N/A	INTRINSIC
Pfam:ASD2	1478	1765	3.1e-107	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113055
AA Change: S242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108678
Gene: ENSMUSG00000029381
AA Change: S242P

Domain	Start	End	E-Value	Type
PDZ	35	109	5.81e-11	SMART
low complexity region	191	202	N/A	INTRINSIC
low complexity region	258	268	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	796	814	N/A	INTRINSIC
low complexity region	860	879	N/A	INTRINSIC
Pfam:ASD1	882	1060	1e-57	PFAM
low complexity region	1114	1127	N/A	INTRINSIC
low complexity region	1307	1318	N/A	INTRINSIC
low complexity region	1347	1359	N/A	INTRINSIC
low complexity region	1449	1463	N/A	INTRINSIC
low complexity region	1508	1520	N/A	INTRINSIC
Pfam:ASD2	1654	1940	9.9e-112	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168878
AA Change: S242P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000130419
Gene: ENSMUSG00000029381
AA Change: S242P

Domain	Start	End	E-Value	Type
PDZ	35	109	5.81e-11	SMART
low complexity region	191	202	N/A	INTRINSIC
low complexity region	258	268	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	796	814	N/A	INTRINSIC
low complexity region	860	879	N/A	INTRINSIC
low complexity region	983	996	N/A	INTRINSIC
low complexity region	1176	1187	N/A	INTRINSIC
low complexity region	1216	1228	N/A	INTRINSIC
low complexity region	1318	1332	N/A	INTRINSIC
low complexity region	1377	1389	N/A	INTRINSIC
Pfam:ASD2	1522	1809	8.9e-108	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172706
AA Change: S67P

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

SMART Domains

Protein: ENSMUSP00000133690
Gene: ENSMUSG00000029381
AA Change: S67P

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
low complexity region	83	93	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000225438
AA Change: S161P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a PDZ-domain-containing protein that belongs to a family of Shroom-related proteins. This protein may be involved in regulating cell shape in certain tissues. A similar protein in mice is required for proper neurulation. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutation of this locus results in failed neural tube closure leading to exencephaly, acrania, facial clefting, and spina bifida. Homozygotes develop to term but die either at birth or shortly thereafter. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	G	A	18: 6,638,794	V398M	probably benign	Het
4930568D16Rik	G	A	2: 35,354,930	P137S	probably damaging	Het
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Abcg8	A	C	17: 84,692,815	I268L	probably benign	Het
Acvrl1	A	G	15: 101,141,157	Q445R	probably damaging	Het
Adam17	T	C	12: 21,330,131	N625D	probably benign	Het
Adamts9	C	T	6: 92,880,740	V856M	probably damaging	Het
Adar	T	C	3: 89,736,167	C452R	probably damaging	Het
Adgra3	G	T	5: 49,978,953	A730D	probably damaging	Het
Adnp2	C	T	18: 80,142,710	R16Q	probably damaging	Het
Aox2	T	C	1: 58,282,692	C48R	probably damaging	Het
Cabin1	T	C	10: 75,657,139	E1774G	possibly damaging	Het
Capsl	A	T	15: 9,465,824	I199F	possibly damaging	Het
Ccdc144b	T	G	3: 36,025,887	*240C	probably null	Het
Ccdc191	T	A	16: 43,898,149	D36E	possibly damaging	Het
Cep170	T	A	1: 176,788,485	K86*	probably null	Het
Cnnm1	T	C	19: 43,476,210	F736S	possibly damaging	Het
Col11a2	T	A	17: 34,057,660	V532E	probably benign	Het
Dnmt3l	T	C	10: 78,056,922		probably null	Het
Dync1h1	T	A	12: 110,656,272		probably benign	Het
Dzank1	C	A	2: 144,522,471	V69L	probably benign	Het
Epor	T	G	9: 21,959,579	E335A	probably damaging	Het
Fbxo46	A	T	7: 19,136,383	Y309F	probably damaging	Het
Fra10ac1	A	T	19: 38,214,331		probably benign	Het
Gid8	G	T	2: 180,710,339		probably benign	Het
Gm14124	T	A	2: 150,268,049	C220S	possibly damaging	Het
Gnptab	C	T	10: 88,433,538	S701L		Het
Ifnl3	T	C	7: 28,524,279	L180P	probably benign	Het
Ikzf2	T	A	1: 69,538,797	I518F	probably damaging	Het
Ildr1	A	G	16: 36,715,557	T145A	probably benign	Het
Kiss1r	A	T	10: 79,918,502		probably benign	Het
Lhpp	A	G	7: 132,650,289	D219G	probably damaging	Het
Lrp1	A	T	10: 127,554,337	M3071K	probably damaging	Het
Map6	T	C	7: 99,336,896	L872P	probably damaging	Het
Mgst2	T	A	3: 51,681,812	L82Q	probably damaging	Het
Mier2	A	T	10: 79,541,922	V399E	probably benign	Het
Nms	T	C	1: 38,946,066	V91A	possibly damaging	Het
Nt5dc2	T	A	14: 31,135,059	Y145*	probably null	Het
Olfml2a	A	T	2: 38,941,741	M111L	probably benign	Het
Olfr487	T	C	7: 108,211,639	N297D	probably damaging	Het
Olfr501-ps1	T	A	7: 108,508,572	L172Q	unknown	Het
Plod3	T	C	5: 136,989,163	I221T	probably damaging	Het
Polm	T	C	11: 5,829,872	Q342R	probably benign	Het
Ppp2r5c	A	T	12: 110,554,869	L275F	probably damaging	Het
Prdm12	C	T	2: 31,643,917	T182M	possibly damaging	Het
Rasgrp2	G	A	19: 6,408,860	V440M	probably damaging	Het
Rnf111	C	T	9: 70,429,564	G947D	probably damaging	Het
Runx3	A	T	4: 135,155,381	M143L	probably damaging	Het
Samd9l	T	C	6: 3,373,104	S1386G	possibly damaging	Het
Saxo2	C	T	7: 82,634,874	V259I	probably benign	Het
Slc35e1	G	A	8: 72,492,186	P134L		Het
Spata31d1a	A	G	13: 59,703,168	V382A	probably benign	Het
Tanc2	T	A	11: 105,919,754		probably benign	Het
Tenm3	A	T	8: 48,313,236		probably null	Het
Trip10	C	T	17: 57,253,519	A123V	probably damaging	Het
Trmt13	A	G	3: 116,581,480	S460P	probably damaging	Het
Trpd52l3	A	G	19: 30,003,929	N28S	probably benign	Het
Tubb4a	A	G	17: 57,081,232	F265L	probably benign	Het
Uba6	A	T	5: 86,135,075	C581S	possibly damaging	Het
Uckl1	A	G	2: 181,569,500	V512A	probably damaging	Het
Usp34	A	T	11: 23,370,528	M957L		Het
Vmn2r57	T	C	7: 41,428,768	I89V	possibly damaging	Het
Zfp322a	T	C	13: 23,357,267	I102V	probably benign	Het
Zzef1	A	G	11: 72,899,778	D2186G	probably benign	Het

Other mutations in Shroom3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Shroom3	APN	5	92,951,065 (GRCm38)	missense	probably damaging	1.00
IGL01086:Shroom3	APN	5	92,948,452 (GRCm38)	missense	probably benign	0.01
IGL01363:Shroom3	APN	5	92,940,993 (GRCm38)	missense	probably benign	0.01
IGL01468:Shroom3	APN	5	92,940,342 (GRCm38)	missense	probably damaging	1.00
IGL01675:Shroom3	APN	5	92,941,680 (GRCm38)	missense	probably damaging	0.99
IGL01862:Shroom3	APN	5	92,962,289 (GRCm38)	missense	probably damaging	1.00
IGL01987:Shroom3	APN	5	92,942,189 (GRCm38)	missense	probably damaging	0.99
IGL02104:Shroom3	APN	5	92,940,389 (GRCm38)	missense	probably benign	0.32
IGL03248:Shroom3	APN	5	92,952,540 (GRCm38)	missense	probably benign	0.00
IGL03386:Shroom3	APN	5	92,948,483 (GRCm38)	splice site	probably benign
R0167:Shroom3	UTSW	5	92,948,395 (GRCm38)	splice site	probably benign
R0388:Shroom3	UTSW	5	92,951,293 (GRCm38)	missense	probably benign	0.39
R0395:Shroom3	UTSW	5	92,780,903 (GRCm38)	missense	probably damaging	1.00
R0567:Shroom3	UTSW	5	92,964,453 (GRCm38)	missense	possibly damaging	0.53
R1496:Shroom3	UTSW	5	92,942,834 (GRCm38)	missense	possibly damaging	0.69
R1772:Shroom3	UTSW	5	92,940,656 (GRCm38)	missense	probably damaging	0.97
R1845:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R1921:Shroom3	UTSW	5	92,962,365 (GRCm38)	critical splice donor site	probably null
R2059:Shroom3	UTSW	5	92,683,784 (GRCm38)	missense	probably damaging	1.00
R2203:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2204:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2205:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2301:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2344:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2345:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2346:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2348:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2371:Shroom3	UTSW	5	92,780,870 (GRCm38)	missense	probably damaging	1.00
R2435:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2829:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2830:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2831:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2897:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R2898:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3079:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3080:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3433:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3729:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3730:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3735:Shroom3	UTSW	5	92,964,444 (GRCm38)	missense	possibly damaging	0.84
R3736:Shroom3	UTSW	5	92,964,444 (GRCm38)	missense	possibly damaging	0.84
R3851:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3852:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3943:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R3969:Shroom3	UTSW	5	92,940,879 (GRCm38)	missense	probably benign	0.05
R4008:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4009:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4012:Shroom3	UTSW	5	92,948,483 (GRCm38)	splice site	probably benign
R4154:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4157:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4172:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4173:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4201:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4202:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4204:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4205:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4206:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4284:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4285:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4364:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4384:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4456:Shroom3	UTSW	5	92,940,999 (GRCm38)	missense	probably benign	0.14
R4707:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4712:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4751:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4755:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4760:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4773:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4774:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4776:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4801:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4802:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4856:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4857:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4860:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4860:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4882:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R4883:Shroom3	UTSW	5	92,951,134 (GRCm38)	missense	probably benign	0.14
R4886:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R5262:Shroom3	UTSW	5	92,964,573 (GRCm38)	missense	probably damaging	1.00
R5271:Shroom3	UTSW	5	92,962,248 (GRCm38)	missense	probably damaging	1.00
R5719:Shroom3	UTSW	5	92,943,018 (GRCm38)	missense	probably benign	0.04
R5726:Shroom3	UTSW	5	92,943,005 (GRCm38)	missense	probably benign	0.00
R5993:Shroom3	UTSW	5	92,940,188 (GRCm38)	missense	probably damaging	1.00
R6078:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R6079:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R6138:Shroom3	UTSW	5	92,943,086 (GRCm38)	missense	probably damaging	1.00
R6153:Shroom3	UTSW	5	92,964,408 (GRCm38)	missense	probably damaging	0.99
R6493:Shroom3	UTSW	5	92,941,561 (GRCm38)	missense	probably benign	0.03
R6495:Shroom3	UTSW	5	92,942,069 (GRCm38)	missense	possibly damaging	0.66
R6693:Shroom3	UTSW	5	92,940,758 (GRCm38)	missense	possibly damaging	0.61
R6801:Shroom3	UTSW	5	92,940,936 (GRCm38)	missense	probably damaging	1.00
R6893:Shroom3	UTSW	5	92,942,204 (GRCm38)	missense	probably damaging	0.97
R6912:Shroom3	UTSW	5	92,943,017 (GRCm38)	missense	probably benign	0.02
R6924:Shroom3	UTSW	5	92,964,403 (GRCm38)	missense	probably damaging	1.00
R7083:Shroom3	UTSW	5	92,964,525 (GRCm38)	missense	probably damaging	1.00
R7197:Shroom3	UTSW	5	92,942,604 (GRCm38)	missense	probably damaging	1.00
R7366:Shroom3	UTSW	5	92,964,606 (GRCm38)	nonsense	probably null
R7712:Shroom3	UTSW	5	92,950,947 (GRCm38)	missense	probably benign	0.01
R7725:Shroom3	UTSW	5	92,941,653 (GRCm38)	missense	probably benign	0.19
R7728:Shroom3	UTSW	5	92,683,707 (GRCm38)	missense	possibly damaging	0.73
R7774:Shroom3	UTSW	5	92,950,489 (GRCm38)	missense	probably damaging	0.98
R7795:Shroom3	UTSW	5	92,919,649 (GRCm38)	missense	probably damaging	0.99
R7821:Shroom3	UTSW	5	92,940,846 (GRCm38)	missense	probably damaging	0.98
R7971:Shroom3	UTSW	5	92,951,074 (GRCm38)	missense	probably damaging	1.00
R8276:Shroom3	UTSW	5	92,940,480 (GRCm38)	missense	probably damaging	0.99
R8934:Shroom3	UTSW	5	92,941,725 (GRCm38)	missense	probably damaging	1.00
R8938:Shroom3	UTSW	5	92,943,071 (GRCm38)	missense	probably damaging	1.00
R9083:Shroom3	UTSW	5	92,950,674 (GRCm38)	missense	probably damaging	0.97
R9124:Shroom3	UTSW	5	92,964,542 (GRCm38)	missense	probably benign	0.19
R9295:Shroom3	UTSW	5	92,950,619 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGTGAGTCCACTAAACCACC -3'
(R):5'- GTCTTGACGTAGCGGATGTC -3'

Sequencing Primer
(F):5'- CACCCCTCAGCGGACTG -3'
(R):5'- GGATGTCTGCCTGCCTCATC -3'

Posted On

2021-12-30