Mutagenetix > Incidental Mutation

Incidental Mutation 'R4285:Shroom3'

322023

Institutional Source

Beutler Lab

Gene Symbol

Shroom3

Ensembl Gene

ENSMUSG00000029381

Gene Name

shroom family member 3

Synonyms

Shrm3, D5Ertd287e, Shrm

MMRRC Submission

041080-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92831294-93113177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 93090945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1151 (V1151F)

Ref Sequence

ENSEMBL: ENSMUSP00000153516 (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: V1057F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108674
Gene: ENSMUSG00000029381
AA Change: V1057F

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: V1057F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108677
Gene: ENSMUSG00000029381
AA Change: V1057F

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: V1232F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108678
Gene: ENSMUSG00000029381
AA Change: V1232F

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

unknown
Transcript: ENSMUST00000168878
AA Change: V1101F

SMART Domains

Protein: ENSMUSP00000130419
Gene: ENSMUSG00000029381
AA Change: V1101F

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 benign
Transcript: ENSMUST00000172706

SMART Domains

Protein: ENSMUSP00000133690
Gene: ENSMUSG00000029381

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201800

Predicted Effect

probably damaging
Transcript: ENSMUST00000225438
AA Change: V1151F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (42/43)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	G	A	3: 116,545,827 (GRCm39)	S1323L	possibly damaging	Het
Ahnak	T	A	19: 8,994,203 (GRCm39)	C5162*	probably null	Het
Carmil3	GGACGA	GGA	14: 55,736,933 (GRCm39)		probably benign	Het
Cfap73	T	C	5: 120,770,654 (GRCm39)	K39E	possibly damaging	Het
Coq6	C	T	12: 84,417,178 (GRCm39)		probably benign	Het
Dlc1	C	T	8: 37,041,282 (GRCm39)	E1316K	possibly damaging	Het
Dscam	A	G	16: 96,510,309 (GRCm39)		probably null	Het
Eya2	T	A	2: 165,566,700 (GRCm39)	N250K	probably benign	Het
Fat4	A	G	3: 38,943,320 (GRCm39)	I738V	probably benign	Het
Gria2	T	G	3: 80,614,969 (GRCm39)		probably benign	Het
Hnrnph3	A	T	10: 62,852,247 (GRCm39)	D238E	probably damaging	Het
Il1rn	T	C	2: 24,239,557 (GRCm39)	L151P	probably damaging	Het
Kctd19	G	A	8: 106,109,581 (GRCm39)		probably benign	Het
Kdm1a	T	C	4: 136,309,347 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc1	C	A	1: 153,110,298 (GRCm39)	G1126W	probably damaging	Het
Magi3	C	A	3: 103,923,184 (GRCm39)	G1178*	probably null	Het
Man2a2	T	C	7: 80,018,367 (GRCm39)	D141G	probably damaging	Het
Map2k1	C	A	9: 64,119,925 (GRCm39)	V127L	probably damaging	Het
Memo1	T	C	17: 74,562,293 (GRCm39)		probably null	Het
Mxd3	A	G	13: 55,477,167 (GRCm39)	S31P	probably benign	Het
Myo5b	G	A	18: 74,847,920 (GRCm39)	E1053K	probably benign	Het
Nup50l	T	C	6: 96,142,733 (GRCm39)	T104A	probably benign	Het
Or2m12	A	C	16: 19,104,714 (GRCm39)	F260V	probably damaging	Het
Or51a5	G	T	7: 102,771,867 (GRCm39)	Y37*	probably null	Het
Pex5l	A	G	3: 33,061,336 (GRCm39)	I171T	probably damaging	Het
Plag1	A	G	4: 3,905,654 (GRCm39)	V12A	probably benign	Het
Podn	C	A	4: 107,878,893 (GRCm39)	V180L	possibly damaging	Het
Prox2	T	A	12: 85,141,698 (GRCm39)	R168S	probably benign	Het
Prss29	A	G	17: 25,541,231 (GRCm39)	Y225C	probably damaging	Het
Rassf2	G	A	2: 131,847,314 (GRCm39)	T97I	probably benign	Het
Samm50	T	C	15: 84,081,213 (GRCm39)	V47A	probably damaging	Het
Slc20a2	G	A	8: 23,051,365 (GRCm39)	R466Q	probably benign	Het
Slc25a51	C	T	4: 45,399,768 (GRCm39)	V141M	probably benign	Het
St6galnac3	A	C	3: 152,912,360 (GRCm39)	V161G	probably benign	Het
Unc5c	T	C	3: 141,420,435 (GRCm39)	I52T	probably damaging	Het
Vat1l	A	G	8: 114,932,523 (GRCm39)	E23G	probably damaging	Het
Vmn2r91	A	G	17: 18,356,030 (GRCm39)	T566A	probably benign	Het
Wls	A	T	3: 159,639,902 (GRCm39)	H511L	probably benign	Het
Zfp644	G	A	5: 106,782,984 (GRCm39)	T1130I	probably damaging	Het

Other mutations in Shroom3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Shroom3	APN	5	93,098,924 (GRCm39)	missense	probably damaging	1.00
IGL01086:Shroom3	APN	5	93,096,311 (GRCm39)	missense	probably benign	0.01
IGL01363:Shroom3	APN	5	93,088,852 (GRCm39)	missense	probably benign	0.01
IGL01468:Shroom3	APN	5	93,088,201 (GRCm39)	missense	probably damaging	1.00
IGL01675:Shroom3	APN	5	93,089,539 (GRCm39)	missense	probably damaging	0.99
IGL01862:Shroom3	APN	5	93,110,148 (GRCm39)	missense	probably damaging	1.00
IGL01987:Shroom3	APN	5	93,090,048 (GRCm39)	missense	probably damaging	0.99
IGL02104:Shroom3	APN	5	93,088,248 (GRCm39)	missense	probably benign	0.32
IGL03248:Shroom3	APN	5	93,100,399 (GRCm39)	missense	probably benign	0.00
IGL03386:Shroom3	APN	5	93,096,342 (GRCm39)	splice site	probably benign
R0167:Shroom3	UTSW	5	93,096,254 (GRCm39)	splice site	probably benign
R0388:Shroom3	UTSW	5	93,099,152 (GRCm39)	missense	probably benign	0.39
R0395:Shroom3	UTSW	5	92,928,762 (GRCm39)	missense	probably damaging	1.00
R0567:Shroom3	UTSW	5	93,112,312 (GRCm39)	missense	possibly damaging	0.53
R1496:Shroom3	UTSW	5	93,090,693 (GRCm39)	missense	possibly damaging	0.69
R1772:Shroom3	UTSW	5	93,088,515 (GRCm39)	missense	probably damaging	0.97
R1845:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R1921:Shroom3	UTSW	5	93,110,224 (GRCm39)	critical splice donor site	probably null
R2059:Shroom3	UTSW	5	92,831,643 (GRCm39)	missense	probably damaging	1.00
R2203:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2204:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2205:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2301:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2344:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2345:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2346:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2348:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2371:Shroom3	UTSW	5	92,928,729 (GRCm39)	missense	probably damaging	1.00
R2435:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2829:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2830:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2831:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2897:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R2898:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3079:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3080:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3433:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3729:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3730:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3735:Shroom3	UTSW	5	93,112,303 (GRCm39)	missense	possibly damaging	0.84
R3736:Shroom3	UTSW	5	93,112,303 (GRCm39)	missense	possibly damaging	0.84
R3851:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3852:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3943:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R3969:Shroom3	UTSW	5	93,088,738 (GRCm39)	missense	probably benign	0.05
R4008:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4009:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4012:Shroom3	UTSW	5	93,096,342 (GRCm39)	splice site	probably benign
R4154:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4157:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4172:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4173:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4201:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4202:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4204:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4205:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4206:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4284:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4364:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4384:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4456:Shroom3	UTSW	5	93,088,858 (GRCm39)	missense	probably benign	0.14
R4707:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4712:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4751:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4755:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4760:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4773:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4774:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4776:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4801:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4802:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4856:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4857:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4860:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4860:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4882:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R4883:Shroom3	UTSW	5	93,098,993 (GRCm39)	missense	probably benign	0.14
R4886:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R5262:Shroom3	UTSW	5	93,112,432 (GRCm39)	missense	probably damaging	1.00
R5271:Shroom3	UTSW	5	93,110,107 (GRCm39)	missense	probably damaging	1.00
R5719:Shroom3	UTSW	5	93,090,877 (GRCm39)	missense	probably benign	0.04
R5726:Shroom3	UTSW	5	93,090,864 (GRCm39)	missense	probably benign	0.00
R5993:Shroom3	UTSW	5	93,088,047 (GRCm39)	missense	probably damaging	1.00
R6078:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R6079:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R6138:Shroom3	UTSW	5	93,090,945 (GRCm39)	missense	probably damaging	1.00
R6153:Shroom3	UTSW	5	93,112,267 (GRCm39)	missense	probably damaging	0.99
R6493:Shroom3	UTSW	5	93,089,420 (GRCm39)	missense	probably benign	0.03
R6495:Shroom3	UTSW	5	93,089,928 (GRCm39)	missense	possibly damaging	0.66
R6693:Shroom3	UTSW	5	93,088,617 (GRCm39)	missense	possibly damaging	0.61
R6801:Shroom3	UTSW	5	93,088,795 (GRCm39)	missense	probably damaging	1.00
R6893:Shroom3	UTSW	5	93,090,063 (GRCm39)	missense	probably damaging	0.97
R6912:Shroom3	UTSW	5	93,090,876 (GRCm39)	missense	probably benign	0.02
R6924:Shroom3	UTSW	5	93,112,262 (GRCm39)	missense	probably damaging	1.00
R7083:Shroom3	UTSW	5	93,112,384 (GRCm39)	missense	probably damaging	1.00
R7197:Shroom3	UTSW	5	93,090,463 (GRCm39)	missense	probably damaging	1.00
R7366:Shroom3	UTSW	5	93,112,465 (GRCm39)	nonsense	probably null
R7712:Shroom3	UTSW	5	93,098,806 (GRCm39)	missense	probably benign	0.01
R7725:Shroom3	UTSW	5	93,089,512 (GRCm39)	missense	probably benign	0.19
R7728:Shroom3	UTSW	5	92,831,566 (GRCm39)	missense	possibly damaging	0.73
R7774:Shroom3	UTSW	5	93,098,348 (GRCm39)	missense	probably damaging	0.98
R7795:Shroom3	UTSW	5	93,067,508 (GRCm39)	missense	probably damaging	0.99
R7821:Shroom3	UTSW	5	93,088,705 (GRCm39)	missense	probably damaging	0.98
R7971:Shroom3	UTSW	5	93,098,933 (GRCm39)	missense	probably damaging	1.00
R8276:Shroom3	UTSW	5	93,088,339 (GRCm39)	missense	probably damaging	0.99
R8934:Shroom3	UTSW	5	93,089,584 (GRCm39)	missense	probably damaging	1.00
R8938:Shroom3	UTSW	5	93,090,930 (GRCm39)	missense	probably damaging	1.00
R9083:Shroom3	UTSW	5	93,098,533 (GRCm39)	missense	probably damaging	0.97
R9108:Shroom3	UTSW	5	93,087,975 (GRCm39)	missense	probably damaging	1.00
R9124:Shroom3	UTSW	5	93,112,401 (GRCm39)	missense	probably benign	0.19
R9295:Shroom3	UTSW	5	93,098,478 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGAGCACACTCATCCGTC -3'
(R):5'- TGTGTCTTAACTGTCAGAACGGTAAC -3'

Sequencing Primer
(F):5'- GTGATCGCAGCAGCTCCTTC -3'
(R):5'- TTAACTGTCAGAACGGTAACCAACC -3'

Posted On

2015-06-20