Mutagenetix > Incidental Mutations

Incidental Mutation 'R6090:Zfp131'

486161

Institutional Source

Beutler Lab

Gene Symbol

Zfp131

Ensembl Gene

ENSMUSG00000094870

Gene Name

zinc finger protein 131

Synonyms

2610109I01Rik, Znf131

MMRRC Submission

044247-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R6090 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119765187-119790889 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119775996 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 275 (H275Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177916] [ENSMUST00000178271] [ENSMUST00000223722] [ENSMUST00000223813] [ENSMUST00000224946]

Predicted Effect

probably damaging
Transcript: ENSMUST00000177916
AA Change: H275Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136867
Gene: ENSMUSG00000094870
AA Change: H275Q

Domain	Start	End	E-Value	Type
BTB	34	129	4.83e-23	SMART
low complexity region	205	216	N/A	INTRINSIC
ZnF_C2H2	261	283	6.23e-2	SMART
ZnF_C2H2	288	311	2.02e-1	SMART
ZnF_C2H2	328	350	4.11e-2	SMART
ZnF_C2H2	356	376	1.09e2	SMART
ZnF_C2H2	392	414	8.47e-4	SMART
ZnF_C2H2	420	443	1.14e0	SMART
low complexity region	532	548	N/A	INTRINSIC
low complexity region	581	593	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178271

SMART Domains

Protein: ENSMUSP00000136019
Gene: ENSMUSG00000094870

Domain	Start	End	E-Value	Type
BTB	34	129	4.83e-23	SMART
low complexity region	205	216	N/A	INTRINSIC
ZnF_C2H2	254	277	2.02e-1	SMART
ZnF_C2H2	294	316	4.11e-2	SMART
ZnF_C2H2	322	342	1.09e2	SMART
ZnF_C2H2	358	380	8.47e-4	SMART
ZnF_C2H2	386	409	1.14e0	SMART
low complexity region	498	514	N/A	INTRINSIC
low complexity region	547	559	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000223722
AA Change: H275Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000223797

Predicted Effect

probably benign
Transcript: ENSMUST00000223813

Predicted Effect

probably damaging
Transcript: ENSMUST00000224946
AA Change: H275Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224969

Predicted Effect

probably benign
Transcript: ENSMUST00000225484

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the BTB/POZ family of transcription factors. This protein has been found to act as a transcriptional activator and may regulate estrogen receptor signaling. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,648,013	A450V	probably benign	Het
Abca8a	T	C	11: 110,063,222		probably null	Het
Adgrl3	A	T	5: 81,512,326	N246I	probably damaging	Het
Arntl2	T	A	6: 146,829,696	S500T	possibly damaging	Het
Cdipt	A	T	7: 126,976,959	M29L	possibly damaging	Het
Chml	G	T	1: 175,687,058	Y432*	probably null	Het
Clasp2	G	T	9: 113,852,735	V320L	probably benign	Het
Col12a1	G	A	9: 79,692,393	T826M	probably damaging	Het
Cpsf3	A	G	12: 21,295,193	I169V	probably damaging	Het
Dhx36	G	A	3: 62,496,820	T234M	probably damaging	Het
Dhx57	A	G	17: 80,263,946		probably null	Het
Dnah1	A	T	14: 31,269,425	I3132N	possibly damaging	Het
Fbxw20	G	T	9: 109,223,363	Q231K	probably benign	Het
Gfod1	G	T	13: 43,200,961	Y179*	probably null	Het
Glg1	T	A	8: 111,181,035	I510F	probably damaging	Het
Gm10801	TC	TCGGC	2: 98,663,806		probably benign	Het
Gse1	C	A	8: 120,571,169		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Klrd1	T	C	6: 129,595,536	L97P	probably damaging	Het
Lgmn	A	T	12: 102,400,154	M240K	probably damaging	Het
Lrp1b	A	G	2: 41,185,868		probably null	Het
Notch2	A	T	3: 98,135,377	R1353*	probably null	Het
Olfr141	A	C	2: 86,806,357	V214G	possibly damaging	Het
Olfr715b	A	G	7: 107,106,249	V204A	possibly damaging	Het
Pcdhb14	G	A	18: 37,448,606	S255N	probably benign	Het
Pcgf2	C	T	11: 97,690,991	M25I	possibly damaging	Het
Poll	G	T	19: 45,555,997	D328E	probably benign	Het
Pomgnt2	A	T	9: 121,982,797	L306Q	probably damaging	Het
Proser1	A	T	3: 53,478,667	M657L	probably benign	Het
Rbm47	G	C	5: 66,026,283	R326G	probably damaging	Het
Rdh11	G	T	12: 79,189,064	P37T	probably benign	Het
Rsph10b	A	T	5: 143,977,128	I286L	probably benign	Het
Sept4	G	A	11: 87,589,517	R238K	possibly damaging	Het
Sptan1	C	T	2: 29,993,887	R580C	probably damaging	Het
Stard9	T	A	2: 120,693,654	W777R	probably damaging	Het
Timd2	T	C	11: 46,687,236	T23A	probably benign	Het
Tmc4	A	G	7: 3,671,053	Y376H	probably damaging	Het
Tmem143	A	G	7: 45,909,526	I297M	probably benign	Het
Togaram1	A	G	12: 64,967,801	T609A	probably benign	Het
Tyw3	T	C	3: 154,597,067	H10R	probably benign	Het
Unc13b	C	A	4: 43,239,306	H3456Q	probably damaging	Het

Other mutations in Zfp131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1444:Zfp131	UTSW	13	119790248	missense	probably damaging	0.99
R1604:Zfp131	UTSW	13	119768780	missense	probably damaging	1.00
R1605:Zfp131	UTSW	13	119768780	missense	probably damaging	1.00
R1712:Zfp131	UTSW	13	119766543	missense	probably benign	0.00
R1899:Zfp131	UTSW	13	119767025	missense	probably damaging	0.99
R2207:Zfp131	UTSW	13	119775812	missense	probably damaging	1.00
R4227:Zfp131	UTSW	13	119766746	missense	probably damaging	1.00
R4342:Zfp131	UTSW	13	119776018	missense	probably damaging	0.99
R4852:Zfp131	UTSW	13	119788858	critical splice donor site	probably null
R4876:Zfp131	UTSW	13	119788955	missense	possibly damaging	0.88
R4990:Zfp131	UTSW	13	119782913	missense	probably damaging	1.00
R5979:Zfp131	UTSW	13	119776446	missense	probably benign	0.03
R6269:Zfp131	UTSW	13	119766405	missense	possibly damaging	0.86
R6791:Zfp131	UTSW	13	119766593	missense	probably damaging	0.98
R7147:Zfp131	UTSW	13	119766543	missense	probably benign	0.00
R7217:Zfp131	UTSW	13	119775841	missense	probably damaging	0.99
R7809:Zfp131	UTSW	13	119788910	missense	probably damaging	1.00
R7815:Zfp131	UTSW	13	119775980	missense	probably damaging	0.99
R8231:Zfp131	UTSW	13	119775812	missense	probably damaging	0.99
R8308:Zfp131	UTSW	13	119782904	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GTTTGTCACAGTACTGGCATATG -3'
(R):5'- ACAGGCTCCTCCGATGATTC -3'

Sequencing Primer
(F):5'- ACGCACTCTCTCGAAGAT -3'
(R):5'- TGTTGGCAGATATCACCAGC -3'

Posted On

2017-08-16