Mutagenetix > Incidental Mutation

Incidental Mutation 'R8369:Srek1ip1'

646316

Institutional Source

Beutler Lab

Gene Symbol

Srek1ip1

Ensembl Gene

ENSMUSG00000021716

Gene Name

splicing regulatory glutamine/lysine-rich protein 1interacting protein 1

Synonyms

Sfrs12ip1, 3110031B13Rik, Srsf12ip1

MMRRC Submission

067739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.232) question?

Stock #

R8369 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104953696-104975805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104970798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 83 (E83G)

Ref Sequence

ENSEMBL: ENSMUSP00000022230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022230] [ENSMUST00000156105]

AlphaFold

Q4V9W2

Predicted Effect

probably benign
Transcript: ENSMUST00000022230
AA Change: E83G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022230
Gene: ENSMUSG00000021716
AA Change: E83G

Domain	Start	End	E-Value	Type
ZnF_C2HC	14	30	4.68e-2	SMART
low complexity region	45	58	N/A	INTRINSIC
low complexity region	67	93	N/A	INTRINSIC
low complexity region	105	141	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156105

SMART Domains

Protein: ENSMUSP00000122592
Gene: ENSMUSG00000021716

Domain	Start	End	E-Value	Type
ZnF_C2HC	14	30	4.68e-2	SMART
low complexity region	45	58	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

All alleles(14) : Targeted, other(4) Gene trapped(10)

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	A	16: 90,852,657 (GRCm39)	H160Y	probably benign	Het
Abcc4	T	G	14: 118,864,869 (GRCm39)	I386L	probably benign	Het
Arap2	G	A	5: 62,761,669 (GRCm39)	R1686*	probably null	Het
Arfgef3	A	T	10: 18,465,477 (GRCm39)	I2122N	probably benign	Het
Arhgap44	A	T	11: 64,950,680 (GRCm39)	D119E	probably damaging	Het
Atp2b2	C	T	6: 113,790,747 (GRCm39)		probably null	Het
Bltp1	T	A	3: 37,065,752 (GRCm39)	L9M		Het
Brinp1	A	T	4: 68,716,936 (GRCm39)	L304Q	possibly damaging	Het
C2cd3	T	C	7: 100,044,465 (GRCm39)	V349A	probably benign	Het
Ccdc93	T	C	1: 121,405,597 (GRCm39)	Y347H	probably damaging	Het
Ccdc93	T	G	1: 121,422,126 (GRCm39)	I534S	probably benign	Het
Cyb5r4	A	T	9: 86,922,486 (GRCm39)	D165V	probably benign	Het
Cygb	G	A	11: 116,540,109 (GRCm39)	T180I	probably benign	Het
Cyp4f15	T	A	17: 32,916,939 (GRCm39)	S285R	probably benign	Het
Daxx	G	T	17: 34,131,590 (GRCm39)	C433F	probably damaging	Het
Dcaf6	T	C	1: 165,185,043 (GRCm39)	E483G	probably damaging	Het
Dennd1a	T	A	2: 37,938,766 (GRCm39)	I115F	probably damaging	Het
Dnajc5b	A	G	3: 19,664,796 (GRCm39)	D198G	probably damaging	Het
Ercc1	T	A	7: 19,088,377 (GRCm39)	C243*	probably null	Het
Ermard	T	C	17: 15,273,560 (GRCm39)	F382L	probably damaging	Het
Fer1l4	C	A	2: 155,861,680 (GRCm39)	G1879V	probably benign	Het
Focad	T	A	4: 88,150,905 (GRCm39)	H516Q	unknown	Het
Gcsam	T	A	16: 45,436,369 (GRCm39)	W51R	probably damaging	Het
Ikbkb	A	G	8: 23,181,097 (GRCm39)	V122A	probably benign	Het
Iqgap2	A	T	13: 95,798,111 (GRCm39)	S1065T	probably damaging	Het
Kif16b	G	A	2: 142,553,777 (GRCm39)	A1007V	probably benign	Het
Krt24	A	T	11: 99,173,534 (GRCm39)	C262*	probably null	Het
Lrat	T	C	3: 82,810,865 (GRCm39)	E52G	probably damaging	Het
Misp3	T	A	8: 84,737,627 (GRCm39)	H94L	unknown	Het
N4bp3	A	G	11: 51,535,253 (GRCm39)	L312P	probably damaging	Het
Naxe	T	C	3: 87,963,994 (GRCm39)	T246A	probably benign	Het
Pcolce2	A	T	9: 95,519,847 (GRCm39)	M1L	probably benign	Het
Slc7a6	G	A	8: 106,919,796 (GRCm39)	A270T	probably damaging	Het
Sord	T	A	2: 122,076,976 (GRCm39)	I27K	probably benign	Het
Srgap3	A	C	6: 112,699,779 (GRCm39)	N1090K	probably benign	Het
Sult2a6	A	C	7: 13,987,327 (GRCm39)		probably null	Het
Tacc2	T	A	7: 130,223,888 (GRCm39)	I191N	probably damaging	Het
Thoc3	A	G	13: 54,615,708 (GRCm39)	S119P	probably damaging	Het
Tirap	A	G	9: 35,100,052 (GRCm39)	S211P	probably benign	Het
Tle4	T	C	19: 14,429,876 (GRCm39)	T632A	probably benign	Het
Tnfaip8l2	T	A	3: 95,047,486 (GRCm39)	I126F	probably benign	Het
Txnrd1	A	G	10: 82,710,480 (GRCm39)	T114A	probably benign	Het
Vmn2r14	A	G	5: 109,369,342 (GRCm39)	L77P	probably damaging	Het
Wwc1	G	A	11: 35,758,198 (GRCm39)	T716I	probably damaging	Het
Yod1	A	G	1: 130,645,360 (GRCm39)	K47R	probably benign	Het
Zfhx2	A	T	14: 55,304,201 (GRCm39)	M1261K	probably benign	Het
Zfhx3	T	C	8: 109,583,448 (GRCm39)	I1105T	possibly damaging	Het
Zfp9	C	A	6: 118,441,353 (GRCm39)	K436N	probably damaging	Het
Zfp979	T	C	4: 147,697,548 (GRCm39)	H387R	possibly damaging	Het

Other mutations in Srek1ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02617:Srek1ip1	APN	13	104,973,984 (GRCm39)	missense	possibly damaging	0.53
B6584:Srek1ip1	UTSW	13	104,953,882 (GRCm39)	splice site	probably benign
R2890:Srek1ip1	UTSW	13	104,970,758 (GRCm39)	missense	probably benign	0.08
R6019:Srek1ip1	UTSW	13	104,970,830 (GRCm39)	critical splice donor site	probably null
R6438:Srek1ip1	UTSW	13	104,973,878 (GRCm39)	missense	probably benign	0.28
R7916:Srek1ip1	UTSW	13	104,973,981 (GRCm39)	missense	possibly damaging	0.53
R8332:Srek1ip1	UTSW	13	104,970,757 (GRCm39)	missense	possibly damaging	0.53
R9099:Srek1ip1	UTSW	13	104,973,964 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- GCATGGACACCTGTTTTCTTG -3'
(R):5'- TAAGCGATGCCTTCATTTCTGATTC -3'

Sequencing Primer
(F):5'- GCATGGACACCTGTTTTCTTGTTATC -3'
(R):5'- ATGTAGAGGACTTTGCTAGTTCAC -3'

Posted On

2020-09-02