Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02710:Gm10392'

304527

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10392

Ensembl Gene

ENSMUSG00000072673

Gene Name

predicted gene 10392

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02710

Quality Score

Status

Chromosome

Chromosomal Location

77407486-77410024 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77409294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 44 (H44R)

Ref Sequence

ENSEMBL: ENSMUSP00000098370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094004] [ENSMUST00000100807]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094004
AA Change: V336A

PolyPhen 2 Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091541
Gene: ENSMUSG00000000686
AA Change: V336A

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	69	84	N/A	INTRINSIC
low complexity region	226	239	N/A	INTRINSIC
SCOP:d1din__	319	411	8e-7	SMART
low complexity region	418	432	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100807
AA Change: H44R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098370
Gene: ENSMUSG00000072673
AA Change: H44R

Domain	Start	End	E-Value	Type
low complexity region	4	19	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136101

SMART Domains

Protein: ENSMUSP00000122898
Gene: ENSMUSG00000044328

Domain	Start	End	E-Value	Type
low complexity region	114	127	N/A	INTRINSIC
low complexity region	167	176	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139195

Predicted Effect

probably benign
Transcript: ENSMUST00000145676

Predicted Effect

probably benign
Transcript: ENSMUST00000147386

SMART Domains

Protein: ENSMUSP00000116682
Gene: ENSMUSG00000000686

Domain	Start	End	E-Value	Type
low complexity region	33	47	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	G	1: 58,373,928 (GRCm39)		probably null	Het
Col18a1	G	A	10: 76,949,146 (GRCm39)	A122V	possibly damaging	Het
Dnai3	A	T	3: 145,753,903 (GRCm39)	I719N	possibly damaging	Het
Dtnb	T	A	12: 3,698,380 (GRCm39)	H289Q	possibly damaging	Het
Fat4	A	T	3: 38,944,744 (GRCm39)	K1212N	probably damaging	Het
Herc2	G	A	7: 55,787,562 (GRCm39)	A1740T	possibly damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Knl1	A	C	2: 118,901,411 (GRCm39)	E1037D	probably damaging	Het
Lsg1	A	T	16: 30,390,292 (GRCm39)	D274E	probably benign	Het
Msantd3	A	G	4: 48,552,686 (GRCm39)	K92E	probably damaging	Het
Nap1l4	G	A	7: 143,077,998 (GRCm39)	T312I	probably benign	Het
Nlrp3	A	G	11: 59,456,802 (GRCm39)	E988G	probably damaging	Het
Or11g2	C	T	14: 50,856,255 (GRCm39)	T192I	probably benign	Het
Palm3	C	T	8: 84,754,941 (GRCm39)	T151I	possibly damaging	Het
Pde1b	T	C	15: 103,430,484 (GRCm39)	W144R	probably damaging	Het
Piezo2	A	G	18: 63,207,730 (GRCm39)	L1427P	probably damaging	Het
Rasal1	A	T	5: 120,804,496 (GRCm39)	H456L	possibly damaging	Het
Sec16a	C	T	2: 26,320,142 (GRCm39)	G1432D	possibly damaging	Het
Shc1	A	G	3: 89,331,917 (GRCm39)		probably null	Het
Skint5	T	A	4: 113,335,156 (GRCm39)	I1452F	unknown	Het
Slc35b4	C	A	6: 34,135,476 (GRCm39)	V279L	probably benign	Het
Snx9	T	C	17: 5,958,873 (GRCm39)	V283A	probably damaging	Het
Stra6l	T	C	4: 45,882,728 (GRCm39)	F480L	possibly damaging	Het
Stt3a	A	G	9: 36,670,041 (GRCm39)	Y132H	probably damaging	Het
Sv2c	T	A	13: 96,125,649 (GRCm39)	I363F	probably damaging	Het
Tnfrsf21	C	T	17: 43,398,820 (GRCm39)	T642I	probably damaging	Het
Tubgcp2	G	A	7: 139,584,897 (GRCm39)		probably benign	Het
Usp47	A	G	7: 111,692,132 (GRCm39)	N845D	probably benign	Het
Wdr20	A	T	12: 110,759,544 (GRCm39)		probably benign	Het
Zfp518b	A	G	5: 38,830,061 (GRCm39)	V648A	probably damaging	Het
Zfp687	A	T	3: 94,916,084 (GRCm39)	S927T	probably benign	Het

Other mutations in Gm10392

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01947:Gm10392	APN	11	77,408,306 (GRCm39)	missense	probably benign	0.07
IGL02454:Gm10392	APN	11	77,409,216 (GRCm39)	missense	probably damaging	1.00
R1583:Gm10392	UTSW	11	77,408,307 (GRCm39)	missense	probably benign	0.07
R5648:Gm10392	UTSW	11	77,408,306 (GRCm39)	missense	probably benign	0.07
R8772:Gm10392	UTSW	11	77,409,280 (GRCm39)	missense	possibly damaging	0.46

Posted On

2015-04-16