Mutagenetix > Incidental Mutation

Incidental Mutation 'R8276:Shroom3'

637975

Institutional Source

Beutler Lab

Gene Symbol

Shroom3

Ensembl Gene

ENSMUSG00000029381

Gene Name

shroom family member 3

Synonyms

Shrm3, D5Ertd287e, Shrm

MMRRC Submission

067699-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92831294-93113177 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93088339 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 363 (Q363L)

Ref Sequence

ENSEMBL: ENSMUSP00000108678 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000113051
AA Change: Q188L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108674
Gene: ENSMUSG00000029381
AA Change: Q188L

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: Q188L

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108677
Gene: ENSMUSG00000029381
AA Change: Q188L

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: Q363L

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

SMART Domains

Protein: ENSMUSP00000108678
Gene: ENSMUSG00000029381
AA Change: Q363L

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: Q363L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000130419
Gene: ENSMUSG00000029381
AA Change: Q363L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,385,885 (GRCm39)	R27W	probably damaging	Het
Acbd5	A	G	2: 22,959,563 (GRCm39)	D39G	probably benign	Het
Amdhd2	C	G	17: 24,382,574 (GRCm39)	R22P	probably damaging	Het
Ankmy1	T	C	1: 92,814,531 (GRCm39)	I325M	probably benign	Het
Cyld	A	G	8: 89,461,556 (GRCm39)	I664M	probably benign	Het
Dnajc10	T	C	2: 80,179,614 (GRCm39)	M716T	probably benign	Het
Dock10	T	A	1: 80,505,998 (GRCm39)	T1743S	probably benign	Het
Dop1a	T	C	9: 86,399,092 (GRCm39)	S947P	probably benign	Het
Ep300	C	G	15: 81,534,229 (GRCm39)	N2095K	possibly damaging	Het
Evi2a	T	A	11: 79,418,316 (GRCm39)	N98I	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Far2	G	T	6: 148,075,399 (GRCm39)	V420L	probably benign	Het
Gng5	A	G	3: 146,206,258 (GRCm39)		probably benign	Het
Heatr5b	G	A	17: 79,098,968 (GRCm39)	R1311*	probably null	Het
Hhipl2	A	T	1: 183,217,328 (GRCm39)	K478M	possibly damaging	Het
Hs3st1	A	T	5: 39,772,146 (GRCm39)	Y166N	probably damaging	Het
Jcad	T	A	18: 4,674,318 (GRCm39)	S693R	probably damaging	Het
Kcnmb3	A	G	3: 32,536,572 (GRCm39)	L52P	probably damaging	Het
Mib1	T	C	18: 10,751,880 (GRCm39)	I254T	possibly damaging	Het
Myo18b	T	C	5: 112,943,273 (GRCm39)	K1644R	possibly damaging	Het
Nherf2	G	T	17: 24,861,234 (GRCm39)	Y175*	probably null	Het
Nlrp2	G	A	7: 5,320,494 (GRCm39)	T881M	probably benign	Het
Or11h23	T	A	14: 50,948,287 (GRCm39)	S167T	probably benign	Het
Or52h9	A	T	7: 104,202,522 (GRCm39)	Y132F	probably damaging	Het
Pkd1l3	A	C	8: 110,397,353 (GRCm39)	*2152C	probably null	Het
Polr2a	G	A	11: 69,638,882 (GRCm39)	R51C	probably damaging	Het
Ptpru	C	T	4: 131,506,484 (GRCm39)	G1026D	probably damaging	Het
Rbm46	A	G	3: 82,771,895 (GRCm39)	V240A	probably damaging	Het
Rrm1	G	A	7: 102,110,059 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,470,962 (GRCm39)	D4637G	probably damaging	Het
Selenos	G	A	7: 65,729,552 (GRCm39)		probably benign	Het
Serpina1e	G	T	12: 103,913,428 (GRCm39)	T364K	probably damaging	Het
Slc9b1	A	C	3: 135,077,658 (GRCm39)	E139D	possibly damaging	Het
Tjp1	A	T	7: 64,993,544 (GRCm39)		probably benign	Het
Tmcc3	A	T	10: 94,418,170 (GRCm39)	T344S	probably damaging	Het
Tnrc6b	T	A	15: 80,764,918 (GRCm39)	S807T	probably benign	Het
Trav7-6	A	T	14: 53,954,695 (GRCm39)	H95L	probably benign	Het
Trmu	T	A	15: 85,766,932 (GRCm39)	V47D	possibly damaging	Het
Uba6	C	A	5: 86,290,509 (GRCm39)		probably benign	Het
Unc79	A	G	12: 102,968,122 (GRCm39)	D116G	possibly damaging	Het
Vmn2r93	G	A	17: 18,525,649 (GRCm39)		probably null	Het
Zfp541	A	T	7: 15,813,009 (GRCm39)	H554L	possibly damaging	Het
Zfp618	A	G	4: 63,051,193 (GRCm39)	H658R	probably damaging	Het
Zmym1	A	T	4: 126,948,051 (GRCm39)	Y107N	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
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
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
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'- CATGGACGTGATTTCTGCCC -3'
(R):5'- GAAGAGTTTGTCTGAGGCCG -3'

Sequencing Primer
(F):5'- TGGCCTCCTAGAAGGGATG -3'
(R):5'- AGGCCGGCAGAACCTTTTC -3'

Posted On

2020-07-28