Mutagenetix > Incidental Mutation

Incidental Mutation 'R8295:Sprr1a'

638881

Institutional Source

Beutler Lab

Gene Symbol

Sprr1a

Ensembl Gene

ENSMUSG00000050359

Gene Name

small proline-rich protein 1A

Synonyms

MMRRC Submission

067714-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8295 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92391261-92393188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92391849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 51 (K51E)

Ref Sequence

ENSEMBL: ENSMUSP00000053751 (fasta)

Gene Model

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

AlphaFold

Q62266

Predicted Effect

possibly damaging
Transcript: ENSMUST00000054599
AA Change: K51E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053751
Gene: ENSMUSG00000050359
AA Change: K51E

Domain	Start	End	E-Value	Type
Pfam:Cornifin	17	142	6.1e-54	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,974,188 (GRCm39)	I915S	probably benign	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ahdc1	T	A	4: 132,788,762 (GRCm39)	M1K	probably null	Het
Akr1c12	T	G	13: 4,322,355 (GRCm39)	D229A	probably benign	Het
Ankfn1	C	T	11: 89,302,923 (GRCm39)	V32M	probably benign	Het
C7	A	T	15: 5,018,327 (GRCm39)	C839S	probably damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc110	A	G	8: 46,396,416 (GRCm39)	D769G	probably damaging	Het
Clk2	G	T	3: 89,080,766 (GRCm39)	D251Y	probably damaging	Het
Dlx1	C	A	2: 71,362,726 (GRCm39)	P211Q	probably benign	Het
Dock8	G	A	19: 25,100,600 (GRCm39)	A703T	probably benign	Het
Eif2d	T	A	1: 131,085,988 (GRCm39)	L161Q	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fndc3a	T	C	14: 72,789,959 (GRCm39)	I1079V	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,262,234 (GRCm39)	V1104A	probably benign	Het
H2-Ab1	A	T	17: 34,483,816 (GRCm39)	Y59F	probably damaging	Het
Ints2	T	C	11: 86,115,914 (GRCm39)	T772A	probably damaging	Het
Kcnh4	A	G	11: 100,640,523 (GRCm39)	V501A	probably benign	Het
Ltbp1	A	T	17: 75,486,184 (GRCm39)	T70S	probably benign	Het
Obox2	A	G	7: 15,131,247 (GRCm39)	T118A	probably benign	Het
Or52ab4	C	T	7: 102,987,474 (GRCm39)	T71I	probably benign	Het
Or8k17	T	C	2: 86,066,916 (GRCm39)	M88V	probably benign	Het
Pih1d2	C	T	9: 50,532,379 (GRCm39)	H146Y	probably damaging	Het
Pou2af1	C	T	9: 51,144,305 (GRCm39)	S73F	possibly damaging	Het
Rnase2a	T	A	14: 51,493,096 (GRCm39)	I90L	probably benign	Het
S100a16	T	A	3: 90,449,336 (GRCm39)	C4S	probably benign	Het
Tmem168	A	T	6: 13,602,850 (GRCm39)	M172K	probably damaging	Het
Tnrc6b	T	C	15: 80,797,565 (GRCm39)	S1371P	probably damaging	Het
Trav21-dv12	T	A	14: 54,113,510 (GRCm39)	L13*	probably null	Het
Vmn1r234	T	A	17: 21,449,101 (GRCm39)	V5D	probably benign	Het
Vmn2r18	A	G	5: 151,508,621 (GRCm39)	C168R	probably damaging	Het
Vmn2r90	C	T	17: 17,948,358 (GRCm39)	P535S	probably benign	Het
Zfp595	A	G	13: 67,464,764 (GRCm39)	C503R	possibly damaging	Het

Other mutations in Sprr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03035:Sprr1a	APN	3	92,391,884 (GRCm39)	missense	probably benign	0.03
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
R8771:Sprr1a	UTSW	3	92,391,989 (GRCm39)	missense	probably benign	0.27

Predicted Primers

PCR Primer
(F):5'- ATCAGGTCTTCAGGCATGGC -3'
(R):5'- CCAGGACCAAGTGCTATCTAAC -3'

Sequencing Primer
(F):5'- CAGGCATGGCTCTGGACAATATTAC -3'
(R):5'- AAGTGCTATCTAACCATGAGTTCCC -3'

Posted On

2020-07-28