Mutagenetix > Incidental Mutation

Incidental Mutation 'R6693:Shroom3'

528167

Institutional Source

Beutler Lab

Gene Symbol

Shroom3

Ensembl Gene

ENSMUSG00000029381

Gene Name

shroom family member 3

Synonyms

D5Ertd287e, Shrm3, Shrm

MMRRC Submission

044811-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6693 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92683435-92965318 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92940758 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 456 (A456T)

Ref Sequence

ENSEMBL: ENSMUSP00000130419 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113051
AA Change: A281T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000108674
Gene: ENSMUSG00000029381
AA Change: A281T

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 benign
Transcript: ENSMUST00000113054
AA Change: A281T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000108677
Gene: ENSMUSG00000029381
AA Change: A281T

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 benign
Transcript: ENSMUST00000113055
AA Change: A456T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000108678
Gene: ENSMUSG00000029381
AA Change: A456T

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

possibly damaging
Transcript: ENSMUST00000168878
AA Change: A456T

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000130419
Gene: ENSMUSG00000029381
AA Change: A456T

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: ENSMUST00000201800

Predicted Effect

probably benign
Transcript: ENSMUST00000225438
AA Change: A375T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

100% (37/37)

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,154 (GRCm38)	V1368A	probably benign	Het
Aak1	C	T	6: 86,965,515 (GRCm38)	S680L	unknown	Het
Adam25	A	T	8: 40,754,531 (GRCm38)	N278I	probably damaging	Het
Adamtsl1	C	A	4: 86,342,886 (GRCm38)	H1111Q	probably benign	Het
Adgrg7	T	A	16: 56,770,224 (GRCm38)	N195Y	probably damaging	Het
Arhgap23	A	G	11: 97,466,517 (GRCm38)	N436S	probably damaging	Het
Cfap65	T	C	1: 74,917,286 (GRCm38)	I1045V	probably benign	Het
Chrm3	T	C	13: 9,877,422 (GRCm38)	N526S	probably benign	Het
Cpeb2	A	T	5: 43,285,912 (GRCm38)	D982V	probably damaging	Het
Fbxw27	T	C	9: 109,788,044 (GRCm38)	I130V	probably benign	Het
Glb1l	T	C	1: 75,209,101 (GRCm38)	D61G	probably damaging	Het
Herc1	G	A	9: 66,478,976 (GRCm38)	C3737Y	probably damaging	Het
Kcnt2	A	T	1: 140,351,227 (GRCm38)	M39L	probably benign	Het
Kif17	C	A	4: 138,286,480 (GRCm38)	Q236K	probably benign	Het
Klhl25	T	C	7: 75,866,813 (GRCm38)	V184A	possibly damaging	Het
Lmf1	A	T	17: 25,645,278 (GRCm38)	M287L	probably benign	Het
Macf1	T	C	4: 123,473,808 (GRCm38)	T822A	possibly damaging	Het
Mmp13	A	T	9: 7,280,245 (GRCm38)	T392S	probably benign	Het
Myo6	T	A	9: 80,245,731 (GRCm38)	N215K	probably damaging	Het
Nedd1	T	C	10: 92,698,337 (GRCm38)	K317R	possibly damaging	Het
Olfr1154	A	G	2: 87,903,308 (GRCm38)	Y123H	probably damaging	Het
Olfr146	C	T	9: 39,018,801 (GRCm38)	A247T	probably damaging	Het
Pax9	T	A	12: 56,709,731 (GRCm38)	S285T	probably benign	Het
Pcdhb15	A	T	18: 37,474,341 (GRCm38)	T209S	probably benign	Het
Pdpk1	A	T	17: 24,111,126 (GRCm38)		probably null	Het
Rbak	T	C	5: 143,174,111 (GRCm38)	K396E	probably damaging	Het
Rps6ka5	A	G	12: 100,573,829 (GRCm38)	V545A	probably benign	Het
Scg2	G	T	1: 79,436,020 (GRCm38)	Q329K	probably benign	Het
Slc12a7	G	T	13: 73,797,537 (GRCm38)	A489S	probably benign	Het
Slc16a4	T	C	3: 107,303,064 (GRCm38)	I350T	probably damaging	Het
Slc25a45	T	C	19: 5,880,134 (GRCm38)	V44A	possibly damaging	Het
Sucla2	T	A	14: 73,568,667 (GRCm38)	L102*	probably null	Het
Tgif1	T	A	17: 70,850,890 (GRCm38)		probably benign	Het
Tmem8b	A	G	4: 43,669,837 (GRCm38)	E111G	probably benign	Het
Zfp971	G	T	2: 178,033,431 (GRCm38)	K274N	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
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'- AGACTGCTACTGACAACCTGC -3'
(R):5'- AGCCATCTTGTTACAGGTTCCC -3'

Sequencing Primer
(F):5'- ACCCGCAGTGATAGCTATGCAG -3'
(R):5'- CTGAGCAGCTGTGTATCCAC -3'

Posted On

2018-07-24