Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02501:Shroom4'

296054

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shroom4

Ensembl Gene

ENSMUSG00000068270

Gene Name

shroom family member 4

Synonyms

D430043L16Rik, Shrm4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02501

Quality Score

Status

Chromosome

Chromosomal Location

6312012-6549508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6495998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 386 (E386G)

Ref Sequence

ENSEMBL: ENSMUSP00000100070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089520] [ENSMUST00000103005] [ENSMUST00000143641]

AlphaFold

Q1W617

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089520
AA Change: E270G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000086949
Gene: ENSMUSG00000068270
AA Change: E270G

Domain	Start	End	E-Value	Type
low complexity region	72	84	N/A	INTRINSIC
low complexity region	118	128	N/A	INTRINSIC
low complexity region	441	454	N/A	INTRINSIC
low complexity region	502	519	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
Pfam:ASD2	912	1352	8.9e-91	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103005
AA Change: E386G

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000100070
Gene: ENSMUSG00000068270
AA Change: E386G

Domain	Start	End	E-Value	Type
PDZ	19	92	1.47e-12	SMART
low complexity region	188	200	N/A	INTRINSIC
low complexity region	234	244	N/A	INTRINSIC
low complexity region	557	570	N/A	INTRINSIC
low complexity region	618	635	N/A	INTRINSIC
low complexity region	657	668	N/A	INTRINSIC
low complexity region	1091	1098	N/A	INTRINSIC
coiled coil region	1107	1145	N/A	INTRINSIC
Pfam:ASD2	1217	1468	9.4e-99	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143641

SMART Domains

Protein: ENSMUSP00000131806
Gene: ENSMUSG00000068270

Domain	Start	End	E-Value	Type
SCOP:d1qava_	1	40	6e-6	SMART
Blast:PDZ	1	41	8e-23	BLAST
PDB:2EDP\|A	1	42	8e-23	PDB

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the APX/Shroom family, which contain an N-terminal PDZ domain and a C-terminal ASD2 motif. The encoded protein may play a role in cytoskeletal architecture. Mutations in this gene have been linked to Stocco dos Santos X-linked mental retardation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad1	A	T	3: 37,137,489 (GRCm39)	I307F	probably damaging	Het
Adam15	G	A	3: 89,247,769 (GRCm39)	A789V	possibly damaging	Het
Bspry	A	G	4: 62,414,672 (GRCm39)	T422A	probably benign	Het
Btnl6	T	A	17: 34,734,648 (GRCm39)	D38V	possibly damaging	Het
Cd59b	G	A	2: 103,909,273 (GRCm39)	C18Y	probably damaging	Het
Clstn1	T	G	4: 149,716,299 (GRCm39)	I255R	probably damaging	Het
Dpp10	A	G	1: 123,613,999 (GRCm39)	L99P	possibly damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Emc1	A	T	4: 139,098,295 (GRCm39)	T759S	probably benign	Het
Fndc1	C	T	17: 7,984,230 (GRCm39)	G1232E	unknown	Het
Gjb3	C	T	4: 127,220,157 (GRCm39)	G125D	probably damaging	Het
Helb	A	G	10: 119,938,693 (GRCm39)	S594P	possibly damaging	Het
Hycc2	C	A	1: 58,579,350 (GRCm39)	R229L	probably damaging	Het
Ildr1	T	C	16: 36,542,712 (GRCm39)	S371P	probably damaging	Het
Kif1b	T	A	4: 149,299,433 (GRCm39)	R946W	probably damaging	Het
Lrp12	T	C	15: 39,741,300 (GRCm39)	T472A	probably damaging	Het
Lyst	A	G	13: 13,886,230 (GRCm39)	D3031G	probably benign	Het
Med12l	A	T	3: 59,169,397 (GRCm39)	T1596S	possibly damaging	Het
Myom1	A	C	17: 71,379,076 (GRCm39)		probably null	Het
Nhlrc2	T	A	19: 56,559,086 (GRCm39)	Y190*	probably null	Het
Nol4	A	T	18: 22,956,398 (GRCm39)	N115K	probably damaging	Het
Nrg1	T	A	8: 32,308,291 (GRCm39)		probably null	Het
Or7g26	T	A	9: 19,229,999 (GRCm39)	H56Q	probably damaging	Het
Oxld1	A	C	11: 120,347,714 (GRCm39)	L161R	probably damaging	Het
Phex	A	G	X: 155,969,271 (GRCm39)	S568P	probably damaging	Het
Pkd1	T	G	17: 24,788,673 (GRCm39)	S810R	probably benign	Het
Plin2	G	T	4: 86,582,723 (GRCm39)	C84*	probably null	Het
Ppfia3	A	T	7: 45,004,362 (GRCm39)		probably benign	Het
Ptpn14	A	G	1: 189,582,587 (GRCm39)	N478S	probably benign	Het
Pygl	A	G	12: 70,237,908 (GRCm39)	M801T	probably benign	Het
Recql5	A	G	11: 115,785,917 (GRCm39)	Y619H	probably benign	Het
Scn3a	C	A	2: 65,356,899 (GRCm39)	D182Y	possibly damaging	Het
Serpinb6e	T	C	13: 34,016,785 (GRCm39)	E316G	possibly damaging	Het
Slc4a2	A	G	5: 24,634,432 (GRCm39)	S24G	probably benign	Het
Slc4a4	A	G	5: 89,277,508 (GRCm39)	I282V	probably benign	Het
Slc8b1	C	T	5: 120,658,918 (GRCm39)	R148C	probably damaging	Het
Stag2	A	G	X: 41,360,202 (GRCm39)		probably benign	Het
Styx	T	A	14: 45,609,922 (GRCm39)	H195Q	probably benign	Het
Sufu	A	G	19: 46,439,349 (GRCm39)	I190V	probably benign	Het
Svep1	A	G	4: 58,145,341 (GRCm39)		probably benign	Het
Tbc1d31	T	C	15: 57,801,344 (GRCm39)	I293T	probably benign	Het
Timp4	T	A	6: 115,223,444 (GRCm39)	I160F	probably damaging	Het
Tmem87a	A	T	2: 120,234,534 (GRCm39)	V3E	probably damaging	Het
Utp4	T	A	8: 107,632,873 (GRCm39)	H285Q	probably benign	Het
Vrk1	T	G	12: 106,028,912 (GRCm39)	S305A	probably benign	Het
Zfp329	G	T	7: 12,545,106 (GRCm39)	H139Q	possibly damaging	Het

Other mutations in Shroom4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Shroom4	APN	X	6,497,257 (GRCm39)	missense	probably damaging	1.00
IGL02978:Shroom4	APN	X	6,497,244 (GRCm39)	missense	probably benign	0.08
FR4548:Shroom4	UTSW	X	6,536,128 (GRCm39)	small deletion	probably benign
FR4589:Shroom4	UTSW	X	6,536,115 (GRCm39)	small deletion	probably benign
FR4976:Shroom4	UTSW	X	6,536,128 (GRCm39)	small deletion	probably benign
R3821:Shroom4	UTSW	X	6,536,276 (GRCm39)	nonsense	probably null
R4812:Shroom4	UTSW	X	6,536,180 (GRCm39)	missense	probably benign
R5384:Shroom4	UTSW	X	6,497,523 (GRCm39)	nonsense	probably null
R5385:Shroom4	UTSW	X	6,497,523 (GRCm39)	nonsense	probably null
R5386:Shroom4	UTSW	X	6,497,523 (GRCm39)	nonsense	probably null
R9416:Shroom4	UTSW	X	6,536,131 (GRCm39)	small deletion	probably benign
X0023:Shroom4	UTSW	X	6,541,205 (GRCm39)	missense	probably damaging	1.00
X0028:Shroom4	UTSW	X	6,496,556 (GRCm39)	missense	probably benign	0.07

Posted On

2015-04-16