Mutagenetix > Incidental Mutation

Incidental Mutation 'R2346:Shroom3'

245945

Institutional Source

Beutler Lab

Gene Symbol

Shroom3

Ensembl Gene

ENSMUSG00000029381

Gene Name

shroom family member 3

Synonyms

D5Ertd287e, Shrm3, Shrm

MMRRC Submission

040329-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2346 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

92683435-92965318 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 92943086 bp (GRCm38)

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: 95.2%

Validation Efficiency

100% (21/21)

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC051665	T	C	13: 60,783,960 (GRCm38)		probably benign	Het
Ces1a	C	T	8: 93,025,319 (GRCm38)	V396M	probably benign	Het
Dnm2	T	C	9: 21,467,556 (GRCm38)	L137P	probably damaging	Het
Elf2	A	G	3: 51,257,444 (GRCm38)	S380P	probably benign	Het
Fbxw15	T	C	9: 109,565,432 (GRCm38)	Y105C	probably damaging	Het
Gm12588	T	C	11: 121,906,168 (GRCm38)	Y285C	probably benign	Het
Gm21276	T	A	7: 38,768,151 (GRCm38)		noncoding transcript	Het
Kat2b	A	G	17: 53,610,904 (GRCm38)	N97S	probably benign	Het
Mus81	A	G	19: 5,484,963 (GRCm38)		probably benign	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247 (GRCm38)		probably null	Het
Nsf	C	T	11: 103,930,752 (GRCm38)	E26K	possibly damaging	Het
Olfr160	T	C	9: 37,711,365 (GRCm38)	R305G	possibly damaging	Het
Pkhd1l1	C	A	15: 44,560,506 (GRCm38)	A3148E	possibly damaging	Het
Prkar2b	T	C	12: 31,972,150 (GRCm38)	N212S	probably benign	Het
Rp1	T	A	1: 4,348,013 (GRCm38)	T959S	probably damaging	Het
Samd4	G	A	14: 46,884,842 (GRCm38)	G8R	probably damaging	Het
Skiv2l-ps1	A	G	17: 34,770,102 (GRCm38)		noncoding transcript	Het
Vmn1r20	A	G	6: 57,431,946 (GRCm38)	M86V	possibly damaging	Het
Vwa1	A	G	4: 155,773,069 (GRCm38)	Y91H	probably benign	Het
Zan	A	G	5: 137,421,867 (GRCm38)	S2843P	unknown	Het
Zbtb39	A	T	10: 127,741,581 (GRCm38)	Q8L	possibly damaging	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
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
R9108:Shroom3	UTSW	5	92,940,116 (GRCm38)	missense	probably damaging	1.00
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'- AAGGAGCACACTCATCCGTC -3'
(R):5'- TTAACTGTCAGAACGGTAACCAAC -3'

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

Posted On

2014-10-30