Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03035:Sprr1a'

408609

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sprr1a

Ensembl Gene

ENSMUSG00000050359

Gene Name

small proline-rich protein 1A

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03035

Quality Score

Status

Chromosome

Chromosomal Location

92391261-92393188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92391884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 39 (D39V)

Ref Sequence

ENSEMBL: ENSMUSP00000053751 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054599]

AlphaFold

Q62266

Predicted Effect

probably benign
Transcript: ENSMUST00000054599
AA Change: D39V

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000053751
Gene: ENSMUSG00000050359
AA Change: D39V

Domain	Start	End	E-Value	Type
Pfam:Cornifin	17	142	6.1e-54	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
Abcc9	A	G	6: 142,573,319 (GRCm39)	L1004P	probably damaging	Het
Adgrf5	T	C	17: 43,741,518 (GRCm39)	I385T	possibly damaging	Het
Alpk3	T	C	7: 80,728,352 (GRCm39)	V494A	probably benign	Het
Camta2	C	A	11: 70,562,335 (GRCm39)	E1021*	probably null	Het
Ccdc6	T	A	10: 70,018,006 (GRCm39)	S334T	probably benign	Het
Cd84	T	C	1: 171,679,601 (GRCm39)	V93A	probably damaging	Het
Ceacam20	T	C	7: 19,711,833 (GRCm39)		probably null	Het
Crip2	A	C	12: 113,107,745 (GRCm39)	T103P	probably benign	Het
Cyp4f14	T	A	17: 33,133,608 (GRCm39)	T83S	probably benign	Het
Dapk1	T	A	13: 60,864,587 (GRCm39)	V127D	probably damaging	Het
Dnah7c	A	G	1: 46,563,277 (GRCm39)	E609G	probably benign	Het
Dscam	T	A	16: 96,621,170 (GRCm39)	I513F	possibly damaging	Het
Ell2	T	A	13: 75,911,767 (GRCm39)	L351*	probably null	Het
Emcn	G	T	3: 137,078,612 (GRCm39)		probably null	Het
Fdft1	A	T	14: 63,400,838 (GRCm39)	C98*	probably null	Het
Fer1l4	A	G	2: 155,864,526 (GRCm39)	S1663P	possibly damaging	Het
Flt4	C	A	11: 49,536,724 (GRCm39)	Y1231*	probably null	Het
Gatb	A	G	3: 85,509,254 (GRCm39)	K139E	probably damaging	Het
Gtf2a1	C	A	12: 91,539,411 (GRCm39)		probably benign	Het
Gtf3c2	A	C	5: 31,323,358 (GRCm39)	V574G	possibly damaging	Het
Heatr1	T	C	13: 12,428,100 (GRCm39)		probably benign	Het
Homer2	T	A	7: 81,274,026 (GRCm39)	T57S	possibly damaging	Het
Ice2	C	A	9: 69,332,970 (GRCm39)	F825L	probably benign	Het
Lepr	C	A	4: 101,622,177 (GRCm39)	L370I	probably damaging	Het
Nalcn	G	A	14: 123,515,630 (GRCm39)	Q1724*	probably null	Het
Nufip1	A	G	14: 76,353,258 (GRCm39)	D222G	probably damaging	Het
Or4f4b	T	C	2: 111,314,168 (GRCm39)	V159A	probably benign	Het
Prl3b1	A	G	13: 27,433,516 (GRCm39)		probably benign	Het
Ptbp3	A	T	4: 59,477,218 (GRCm39)	M393K	probably benign	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rapgef2	T	A	3: 79,001,731 (GRCm39)	H282L	probably damaging	Het
Rars2	T	C	4: 34,656,865 (GRCm39)		probably null	Het
Rnf213	G	A	11: 119,336,452 (GRCm39)		probably benign	Het
Ros1	C	A	10: 51,952,080 (GRCm39)		probably benign	Het
Slx4ip	A	G	2: 136,909,623 (GRCm39)	D206G	possibly damaging	Het
Stab1	A	G	14: 30,869,726 (GRCm39)	V1442A	probably benign	Het
Tbx3	C	A	5: 119,821,161 (GRCm39)		probably benign	Het
Ubl3	A	G	5: 148,442,947 (GRCm39)	*118Q	probably null	Het
Vmn2r55	G	A	7: 12,404,743 (GRCm39)	S220L	probably benign	Het
Vps36	A	G	8: 22,708,431 (GRCm39)	K362E	probably benign	Het
Zfp268	C	A	4: 145,348,802 (GRCm39)	Q80K	possibly damaging	Het

Other mutations in Sprr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0321:Sprr1a	UTSW	3	92,391,609 (GRCm39)	missense	probably benign	0.27
R3758:Sprr1a	UTSW	3	92,391,704 (GRCm39)	missense	probably damaging	1.00
R3883:Sprr1a	UTSW	3	92,391,827 (GRCm39)	missense	probably damaging	0.99
R5889:Sprr1a	UTSW	3	92,391,951 (GRCm39)	missense	probably benign	0.24
R7195:Sprr1a	UTSW	3	92,391,674 (GRCm39)	missense	probably damaging	1.00
R8295:Sprr1a	UTSW	3	92,391,849 (GRCm39)	missense	possibly damaging	0.89
R8771:Sprr1a	UTSW	3	92,391,989 (GRCm39)	missense	probably benign	0.27

Posted On

2016-08-02