Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01946:Smr3a'

180945

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smr3a

Ensembl Gene

ENSMUSG00000029280

Gene Name

submaxillary gland androgen regulated protein 3A

Synonyms

Smr1, MSG3, Smr3, MSG1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL01946

Quality Score

Status

Chromosome

Chromosomal Location

88150408-88156393 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 88156014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139852 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031211] [ENSMUST00000187738] [ENSMUST00000189633]

AlphaFold

Q61900

Predicted Effect

unknown
Transcript: ENSMUST00000031211
AA Change: P61S

SMART Domains

Protein: ENSMUSP00000031211
Gene: ENSMUSG00000029280
AA Change: P61S

Domain	Start	End	E-Value	Type
Pfam:PROL5-SMR	1	92	6.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187738

Predicted Effect

probably benign
Transcript: ENSMUST00000189633

SMART Domains

Protein: ENSMUSP00000139852
Gene: ENSMUSG00000029280

Domain	Start	End	E-Value	Type
Pfam:PROL5-SMR	1	64	1.8e-19	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,547,442 (GRCm39)	E343K	possibly damaging	Het
Abcc9	T	C	6: 142,571,763 (GRCm39)	I1087V	probably benign	Het
Bcam	A	C	7: 19,494,042 (GRCm39)	Y416*	probably null	Het
Bhlhe22	T	A	3: 18,109,960 (GRCm39)	C337S	probably damaging	Het
Cerkl	T	C	2: 79,223,364 (GRCm39)	D119G	probably benign	Het
Cog6	T	C	3: 52,909,825 (GRCm39)		probably benign	Het
Dchs1	T	C	7: 105,408,312 (GRCm39)	D1840G	probably damaging	Het
Dhx16	G	T	17: 36,196,396 (GRCm39)	M521I	probably benign	Het
Dnaja2	A	G	8: 86,273,329 (GRCm39)	I196T	probably damaging	Het
Fbxw7	T	C	3: 84,811,369 (GRCm39)	Y165H	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm3371	A	G	14: 44,646,178 (GRCm39)	Y96H	probably damaging	Het
H2-T10	G	A	17: 36,431,608 (GRCm39)	A82V	possibly damaging	Het
Hydin	A	G	8: 111,217,350 (GRCm39)	T1413A	possibly damaging	Het
Krt23	T	A	11: 99,383,665 (GRCm39)	M76L	possibly damaging	Het
Lipe	A	T	7: 25,082,701 (GRCm39)	M504K	possibly damaging	Het
Lrrc37	T	A	11: 103,503,759 (GRCm39)	R560S	probably benign	Het
Lta4h	T	A	10: 93,307,232 (GRCm39)		probably benign	Het
Ltbp2	T	C	12: 84,877,522 (GRCm39)	T348A	probably damaging	Het
Mybpc2	C	A	7: 44,159,322 (GRCm39)		probably benign	Het
Or51r1	T	C	7: 102,227,734 (GRCm39)		probably null	Het
Or52r1b	T	A	7: 102,691,357 (GRCm39)	S219T	probably damaging	Het
Pdp2	G	A	8: 105,320,824 (GRCm39)	M224I	probably benign	Het
Pimreg	C	T	11: 71,935,804 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,178,766 (GRCm39)	S887C	probably damaging	Het
Ppp1r3g	G	A	13: 36,152,978 (GRCm39)	A133T	possibly damaging	Het
Prpf8	G	A	11: 75,390,818 (GRCm39)	G1323D	probably damaging	Het
Rab3ip	A	G	10: 116,773,300 (GRCm39)		probably null	Het
Rpain	A	G	11: 70,861,358 (GRCm39)	H9R	possibly damaging	Het
Scin	T	C	12: 40,110,490 (GRCm39)		probably benign	Het
Serpinb6d	A	G	13: 33,855,369 (GRCm39)	T348A	probably benign	Het
Smad3	A	G	9: 63,664,835 (GRCm39)	L42P	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r13	G	A	5: 109,322,085 (GRCm39)	T204I	probably benign	Het
Zfhx3	A	G	8: 109,660,561 (GRCm39)	N1272D	probably damaging	Het

Other mutations in Smr3a

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00334:Smr3a	APN	5	88,155,919 (GRCm39)	utr 3 prime	probably benign
R0410:Smr3a	UTSW	5	88,156,070 (GRCm39)	intron	probably benign
R1817:Smr3a	UTSW	5	88,155,917 (GRCm39)	utr 3 prime	probably benign
R4166:Smr3a	UTSW	5	88,156,013 (GRCm39)	intron	probably benign
R4977:Smr3a	UTSW	5	88,155,962 (GRCm39)	critical splice donor site	probably null
R5367:Smr3a	UTSW	5	88,155,897 (GRCm39)	utr 3 prime	probably benign
R5933:Smr3a	UTSW	5	88,155,873 (GRCm39)	splice site	probably null
R6944:Smr3a	UTSW	5	88,155,949 (GRCm39)	utr 3 prime	probably benign
R7899:Smr3a	UTSW	5	88,156,086 (GRCm39)	missense	unknown
R8444:Smr3a	UTSW	5	88,152,611 (GRCm39)	missense	unknown

Posted On

2014-05-07