Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02617:Srek1ip1'

300714

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srek1ip1

Ensembl Gene

ENSMUSG00000021716

Gene Name

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

Synonyms

Sfrs12ip1, 3110031B13Rik, Srsf12ip1

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

IGL02617

Quality Score

Status

Chromosome

Chromosomal Location

104953696-104975805 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 104973984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 130 (H130Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022230 (fasta)

Gene Model

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

AlphaFold

Q4V9W2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022230
AA Change: H130Q

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000022230
Gene: ENSMUSG00000021716
AA Change: H130Q

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

noncoding transcript
Transcript: ENSMUST00000137278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145661

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147061

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,394,807 (GRCm39)	Q172*	probably null	Het
Adgrg5	A	G	8: 95,660,610 (GRCm39)	D79G	probably benign	Het
Aga	G	A	8: 53,973,348 (GRCm39)	D249N	possibly damaging	Het
Aifm3	A	G	16: 17,318,397 (GRCm39)	Q170R	probably null	Het
Cdh2	T	A	18: 16,760,661 (GRCm39)	N512Y	probably damaging	Het
Chd8	A	G	14: 52,472,648 (GRCm39)	I385T	probably benign	Het
Clic6	A	G	16: 92,296,206 (GRCm39)	K289E	probably benign	Het
Ctcf	G	T	8: 106,403,842 (GRCm39)		probably benign	Het
Fat1	T	C	8: 45,488,628 (GRCm39)	Y3447H	probably benign	Het
Fhip1a	A	T	3: 85,580,344 (GRCm39)	D620E	probably benign	Het
Fmo2	T	A	1: 162,704,490 (GRCm39)	Q472L	probably damaging	Het
Gcnt3	C	A	9: 69,941,444 (GRCm39)	G375W	probably damaging	Het
Golga3	T	A	5: 110,336,612 (GRCm39)	V417E	probably benign	Het
Hivep3	T	C	4: 119,952,641 (GRCm39)	L319P	probably benign	Het
Kctd13	A	G	7: 126,541,504 (GRCm39)	K248R	possibly damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Niban1	T	A	1: 151,447,296 (GRCm39)	S6T	probably benign	Het
Nmt2	A	G	2: 3,315,750 (GRCm39)	I247V	probably benign	Het
Or14a256	T	G	7: 86,264,872 (GRCm39)	H327P	probably benign	Het
Or1e30	T	A	11: 73,678,560 (GRCm39)	N265K	probably benign	Het
Pcdhb12	T	C	18: 37,570,099 (GRCm39)	V415A	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prr27	T	A	5: 87,990,518 (GRCm39)	N43K	probably benign	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Sec24a	A	T	11: 51,603,014 (GRCm39)		probably null	Het
Trio	C	T	15: 27,841,935 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,608,614 (GRCm39)		probably benign	Het
Vmn2r65	C	A	7: 84,589,549 (GRCm39)	S789I	probably damaging	Het
Zbtb17	A	G	4: 141,192,399 (GRCm39)	Q448R	probably damaging	Het

Other mutations in Srek1ip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8369:Srek1ip1	UTSW	13	104,970,798 (GRCm39)	missense	probably benign
R9099:Srek1ip1	UTSW	13	104,973,964 (GRCm39)	missense	possibly damaging	0.73

Posted On

2015-04-16