Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02392:Gm21970'

294261

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm21970

Ensembl Gene

ENSMUSG00000093701

Gene Name

predicted gene 21970

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02392

Quality Score

Status

Chromosome

Chromosomal Location

91188609-91216339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91211545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 128 (S128A)

Ref Sequence

ENSEMBL: ENSMUSP00000023691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023691] [ENSMUST00000156133]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023691
AA Change: S128A

PolyPhen 2 Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023691
Gene: ENSMUSG00000022969
AA Change: S128A

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
FN3	23	100	4.6e-2	SMART
FN3	114	204	7.1e-3	SMART
transmembrane domain	228	250	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137612

Predicted Effect

probably benign
Transcript: ENSMUST00000144215

SMART Domains

Protein: ENSMUSP00000120485
Gene: ENSMUSG00000022969

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	7	65	1.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152729

Predicted Effect

probably benign
Transcript: ENSMUST00000156133

SMART Domains

Protein: ENSMUSP00000120227
Gene: ENSMUSG00000022969

Domain	Start	End	E-Value	Type
low complexity region	39	48	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000160764
AA Change: S214A

SMART Domains

Protein: ENSMUSP00000123997
Gene: ENSMUSG00000093701
AA Change: S214A

Domain	Start	End	E-Value	Type
FN3	2	92	5.1e1	SMART
FN3	110	187	9.09e0	SMART
FN3	201	291	1.39e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161517

SMART Domains

Protein: ENSMUSP00000125579
Gene: ENSMUSG00000093701

Domain	Start	End	E-Value	Type
Pfam:Interfer-bind	1	100	7.5e-20	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
C2cd6	T	C	1: 59,133,997 (GRCm39)	N8S	probably benign	Het
Cdh8	G	A	8: 99,757,387 (GRCm39)	T737M	probably damaging	Het
Celsr3	T	C	9: 108,711,920 (GRCm39)		probably benign	Het
Cenph	T	A	13: 100,909,269 (GRCm39)	Q46L	probably benign	Het
Dlg5	A	G	14: 24,200,277 (GRCm39)	C1395R	probably damaging	Het
Dnah8	C	T	17: 31,037,025 (GRCm39)		probably benign	Het
Dolk	T	C	2: 30,175,740 (GRCm39)	N102D	probably benign	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Farp2	G	A	1: 93,505,372 (GRCm39)	R368Q	probably damaging	Het
Fermt3	A	T	19: 6,996,183 (GRCm39)	M4K	probably benign	Het
Fndc8	A	C	11: 82,789,429 (GRCm39)	T196P	probably damaging	Het
Galc	G	A	12: 98,173,672 (GRCm39)	T630I	probably damaging	Het
Gpr146	T	C	5: 139,378,533 (GRCm39)	S112P	probably damaging	Het
Grip2	A	G	6: 91,764,276 (GRCm39)	S51P	probably damaging	Het
Htra2	G	T	6: 83,031,280 (GRCm39)	T43N	possibly damaging	Het
Lnpep	T	C	17: 17,799,445 (GRCm39)	Y70C	possibly damaging	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mtdh	A	T	15: 34,099,723 (GRCm39)	N158Y	probably damaging	Het
Neo1	A	T	9: 58,833,094 (GRCm39)	H550Q	possibly damaging	Het
Or2h1b	C	T	17: 37,461,979 (GRCm39)	V295I	probably benign	Het
Or5p57	A	C	7: 107,665,710 (GRCm39)	F68L	probably benign	Het
Pex1	C	T	5: 3,655,952 (GRCm39)	Q260*	probably null	Het
Pex6	T	C	17: 47,034,425 (GRCm39)	V758A	probably damaging	Het
Qsox1	T	C	1: 155,688,346 (GRCm39)	E67G	probably damaging	Het
Rimbp2	C	T	5: 128,848,861 (GRCm39)	S895N	probably benign	Het
Rnls	A	G	19: 33,180,012 (GRCm39)	V28A	possibly damaging	Het
Spidr	T	C	16: 15,707,494 (GRCm39)	*934W	probably null	Het
Spta1	A	T	1: 174,046,380 (GRCm39)	M1654L	probably damaging	Het
Srbd1	C	A	17: 86,295,801 (GRCm39)	V870F	probably benign	Het
Suco	A	T	1: 161,662,136 (GRCm39)	M765K	probably benign	Het
Taok1	A	G	11: 77,440,178 (GRCm39)	Y610H	probably benign	Het
Thbs1	A	G	2: 117,945,141 (GRCm39)	N238S	probably benign	Het
Them7	T	A	2: 105,209,220 (GRCm39)	L180*	probably null	Het
Trim45	A	G	3: 100,832,621 (GRCm39)	I285V	probably benign	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Ttn	A	G	2: 76,601,887 (GRCm39)	S10265P	probably damaging	Het
Vgll3	A	T	16: 65,612,556 (GRCm39)	Y13F	probably damaging	Het
Ylpm1	T	A	12: 85,061,731 (GRCm39)	M544K	unknown	Het
Ypel1	T	C	16: 16,906,702 (GRCm39)	T500A	probably benign	Het
Zmym1	T	A	4: 126,942,256 (GRCm39)	S711C	probably damaging	Het

Other mutations in Gm21970

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03182:Gm21970	APN	16	91,190,726 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-04-16