Mutagenetix > Incidental Mutation

Incidental Mutation 'R6153:Shroom3'

489376

Institutional Source

Beutler Lab

Gene Symbol

Shroom3

Ensembl Gene

ENSMUSG00000029381

Gene Name

shroom family member 3

Synonyms

Shrm3, D5Ertd287e, Shrm

MMRRC Submission

044300-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6153 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92831294-93113177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93112267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1876 (R1876Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108678 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113051
AA Change: R1701Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108674
Gene: ENSMUSG00000029381
AA Change: R1701Q

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: R1701Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108677
Gene: ENSMUSG00000029381
AA Change: R1701Q

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: R1876Q

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108678
Gene: ENSMUSG00000029381
AA Change: R1876Q

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: R1745Q

SMART Domains

Protein: ENSMUSP00000130419
Gene: ENSMUSG00000029381
AA Change: R1745Q

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

noncoding transcript
Transcript: ENSMUST00000172752

Predicted Effect

probably damaging
Transcript: ENSMUST00000225438
AA Change: R1795Q

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Meta Mutation Damage Score

0.1827

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

99% (66/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,251,259 (GRCm39)		probably null	Het
Ache	T	C	5: 137,290,117 (GRCm39)	I394T	probably damaging	Het
Acsm1	G	A	7: 119,232,289 (GRCm39)	G62D	probably damaging	Het
Actrt3	T	A	3: 30,653,899 (GRCm39)	I34F	probably damaging	Het
Adgrf5	T	C	17: 43,761,974 (GRCm39)	I1223T	possibly damaging	Het
Adora2a	T	C	10: 75,161,981 (GRCm39)	F40S	possibly damaging	Het
Ano8	T	C	8: 71,933,441 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,293,107 (GRCm39)	L675Q	probably damaging	Het
Atg2b	T	C	12: 105,589,741 (GRCm39)	I1837V	possibly damaging	Het
Atp10b	A	G	11: 43,145,109 (GRCm39)	Y1284C	probably damaging	Het
B3gnt7	G	T	1: 86,233,237 (GRCm39)	G44V	probably damaging	Het
Chrna1	G	T	2: 73,403,653 (GRCm39)	H99N	probably benign	Het
Cnksr1	T	C	4: 133,961,204 (GRCm39)	H220R	probably damaging	Het
Cpsf2	T	A	12: 101,965,619 (GRCm39)		probably null	Het
Daglb	T	C	5: 143,489,096 (GRCm39)	L651P	probably benign	Het
Ddx60	A	G	8: 62,398,974 (GRCm39)	D231G	possibly damaging	Het
Ehd4	A	C	2: 119,932,904 (GRCm39)	F174C	probably damaging	Het
Emsy	G	T	7: 98,260,060 (GRCm39)	P9T	probably damaging	Het
Fnbp1l	T	C	3: 122,352,805 (GRCm39)	E217G	probably benign	Het
Gm11596	A	T	11: 99,683,524 (GRCm39)	C199S	unknown	Het
Gmps	T	G	3: 63,908,964 (GRCm39)	C489G	probably benign	Het
Gpsm1	T	C	2: 26,215,425 (GRCm39)	Y296H	probably benign	Het
Heatr5b	T	C	17: 79,138,870 (GRCm39)	T91A	possibly damaging	Het
Hs3st3b1	A	T	11: 63,780,324 (GRCm39)	W268R	probably damaging	Het
Il27ra	T	C	8: 84,758,773 (GRCm39)		probably null	Het
Itga5	T	A	15: 103,265,880 (GRCm39)	I156F	probably damaging	Het
Kcnmb3	T	A	3: 32,527,976 (GRCm39)	D96V	probably damaging	Het
Khdrbs1	T	A	4: 129,609,965 (GRCm39)	N417Y	probably damaging	Het
Loxhd1	A	G	18: 77,383,454 (GRCm39)	N118D	possibly damaging	Het
Mdm4	A	G	1: 132,919,845 (GRCm39)	L341P	probably damaging	Het
Mecom	T	C	3: 30,047,797 (GRCm39)	E225G	possibly damaging	Het
Megf8	G	A	7: 25,046,796 (GRCm39)	G1560S	possibly damaging	Het
Mfsd13a	A	T	19: 46,356,321 (GRCm39)	D142V	probably damaging	Het
Muc5b	A	T	7: 141,415,181 (GRCm39)	Y2709F	possibly damaging	Het
Nelfa	A	T	5: 34,056,223 (GRCm39)	I480N	probably damaging	Het
Or10ak8	G	A	4: 118,773,944 (GRCm39)	S240F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Palld	G	T	8: 62,003,186 (GRCm39)	N304K	probably damaging	Het
Pcsk5	A	G	19: 17,488,856 (GRCm39)	L988P	probably damaging	Het
Prmt1	A	T	7: 44,631,251 (GRCm39)	F34I	probably damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Ralb	A	T	1: 119,405,870 (GRCm39)		probably null	Het
Robo2	T	A	16: 73,717,617 (GRCm39)	D141V	probably damaging	Het
Rsrc1	T	C	3: 67,262,895 (GRCm39)	I283T	probably benign	Het
Sec62	A	T	3: 30,864,631 (GRCm39)	K165M	unknown	Het
Sez6	A	G	11: 77,868,648 (GRCm39)	D974G	probably damaging	Het
Shc2	T	A	10: 79,465,752 (GRCm39)	I187F	possibly damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Skil	T	A	3: 31,152,002 (GRCm39)	F175I	probably damaging	Het
Slc1a1	T	C	19: 28,886,935 (GRCm39)	V432A	probably damaging	Het
Slit3	G	T	11: 35,591,310 (GRCm39)	G1374V	possibly damaging	Het
Snx14	T	C	9: 88,273,859 (GRCm39)	Y644C	probably damaging	Het
Snx33	T	A	9: 56,833,983 (GRCm39)	I29F	possibly damaging	Het
Sos1	T	A	17: 80,756,764 (GRCm39)	I263L	probably benign	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tbpl2	C	A	2: 23,966,028 (GRCm39)	V320F	probably damaging	Het
Tmem209	A	G	6: 30,505,794 (GRCm39)	S171P	probably benign	Het
Tprkb	T	A	6: 85,893,172 (GRCm39)		probably null	Het
Tspan11	G	A	6: 127,916,061 (GRCm39)	S119N	probably benign	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp976	A	C	7: 42,263,610 (GRCm39)	Y76D	probably damaging	Het
Zkscan2	G	A	7: 123,088,993 (GRCm39)	T426I	probably benign	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
R4285: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
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'- AGGTACATCCATCCATCCTTCG -3'
(R):5'- GTCAACGTTGGGAAAACACC -3'

Sequencing Primer
(F):5'- CTTCGCACTGTTGAGTAGAGCAC -3'
(R):5'- TTGGGCCTGAAGTCCGAG -3'

Posted On

2017-10-10