Mutagenetix > Incidental Mutation

Incidental Mutation 'R4990:Zfp131'

386159

Institutional Source

Beutler Lab

Gene Symbol

Zfp131

Ensembl Gene

ENSMUSG00000094870

Gene Name

zinc finger protein 131

Synonyms

2610109I01Rik, Znf131

MMRRC Submission

042584-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R4990 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

120226723-120252425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120244449 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 77 (V77G)

Ref Sequence

ENSEMBL: ENSMUSP00000153517 (fasta)

Gene Model

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

AlphaFold

Q8K3J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000177916
AA Change: V77G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136867
Gene: ENSMUSG00000094870
AA Change: V77G

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 damaging
Transcript: ENSMUST00000178271
AA Change: V77G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136019
Gene: ENSMUSG00000094870
AA Change: V77G

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: V77G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223813
AA Change: V77G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224946
AA Change: V77G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224969

Predicted Effect

probably benign
Transcript: ENSMUST00000225484

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,334,098 (GRCm39)	I1135V	possibly damaging	Het
Abca14	G	A	7: 119,911,388 (GRCm39)	R1324K	probably benign	Het
Amer3	A	C	1: 34,627,822 (GRCm39)	D687A	probably benign	Het
Aplnr	G	A	2: 84,967,721 (GRCm39)	V249M	probably damaging	Het
Atg16l1	A	G	1: 87,717,091 (GRCm39)	K471R	probably benign	Het
Cacna1b	A	G	2: 24,568,886 (GRCm39)		probably null	Het
Catspere2	A	C	1: 177,925,987 (GRCm39)	I218L	probably benign	Het
Ccdc152	A	G	15: 3,330,639 (GRCm39)	I12T	probably benign	Het
Cds1	A	G	5: 101,946,245 (GRCm39)	Y148C	probably damaging	Het
Cenpe	T	A	3: 134,962,401 (GRCm39)	L1989Q	probably damaging	Het
Cep295	T	C	9: 15,243,434 (GRCm39)	Q1674R	probably damaging	Het
D930020B18Rik	C	G	10: 121,490,666 (GRCm39)	P89A	probably damaging	Het
D930020B18Rik	C	T	10: 121,490,667 (GRCm39)	P89L	probably damaging	Het
Dock2	T	C	11: 34,586,078 (GRCm39)	M535V	probably damaging	Het
Dscam	A	G	16: 96,626,715 (GRCm39)	V398A	probably benign	Het
Elmo1	T	C	13: 20,526,689 (GRCm39)	F413S	probably damaging	Het
Emb	T	A	13: 117,401,046 (GRCm39)	N198K	probably damaging	Het
Eno3	A	G	11: 70,549,473 (GRCm39)	D98G	probably damaging	Het
Fbp1	C	T	13: 63,012,888 (GRCm39)	V102I	probably benign	Het
Fbxw18	T	C	9: 109,517,461 (GRCm39)	E414G	probably damaging	Het
Grem2	A	G	1: 174,664,379 (GRCm39)	C157R	probably damaging	Het
Hnrnpr	G	A	4: 136,063,609 (GRCm39)	V239I	probably damaging	Het
Hnrnpr	A	G	4: 136,056,690 (GRCm39)	E230G	probably damaging	Het
Ipo11	A	T	13: 106,997,395 (GRCm39)	I688K	probably benign	Het
Irx4	G	T	13: 73,413,626 (GRCm39)	R32L	probably benign	Het
Kcnh7	T	C	2: 62,564,632 (GRCm39)	N876D	probably benign	Het
Klk1b26	T	A	7: 43,665,673 (GRCm39)		probably null	Het
Lrp2	G	T	2: 69,311,732 (GRCm39)	T2582K	probably benign	Het
Lrriq1	A	G	10: 103,036,420 (GRCm39)	I911T	probably damaging	Het
Megf6	A	G	4: 154,351,683 (GRCm39)	E1132G	possibly damaging	Het
Mesp1	A	G	7: 79,442,669 (GRCm39)	Y203H	probably damaging	Het
Ms4a4a	T	C	19: 11,356,201 (GRCm39)	S29P	probably benign	Het
Nbeal2	A	C	9: 110,463,871 (GRCm39)	C1174G	probably benign	Het
Neb	C	T	2: 52,145,558 (GRCm39)	V2989I	probably benign	Het
Nkx2-1	T	C	12: 56,581,724 (GRCm39)	Y41C	possibly damaging	Het
Nrxn3	T	A	12: 89,227,244 (GRCm39)	I293N	probably damaging	Het
Nt5e	A	G	9: 88,237,646 (GRCm39)	N192S	probably benign	Het
Ntng1	A	T	3: 110,042,577 (GRCm39)		probably null	Het
Or13a17	G	A	7: 140,271,360 (GRCm39)	E181K	probably damaging	Het
Or3a1d	A	G	11: 74,238,023 (GRCm39)	I129T	probably damaging	Het
Or4c110	A	T	2: 88,831,816 (GRCm39)	I272K	probably damaging	Het
Or4c15b	A	T	2: 89,113,671 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,513 (GRCm39)	Y121H	probably damaging	Het
Pcsk4	A	G	10: 80,161,215 (GRCm39)	I233T	possibly damaging	Het
Pgm3	T	A	9: 86,440,465 (GRCm39)	I409F	probably damaging	Het
Plg	T	C	17: 12,630,397 (GRCm39)	Y645H	probably benign	Het
Pon3	T	C	6: 5,221,619 (GRCm39)	H337R	probably benign	Het
Rasa2	A	G	9: 96,474,042 (GRCm39)	I162T	probably benign	Het
Ror1	A	G	4: 100,299,161 (GRCm39)	I845V	probably benign	Het
Rpl4	T	C	9: 64,082,167 (GRCm39)	V22A	probably benign	Het
Ryr3	T	C	2: 112,740,318 (GRCm39)	N531S	probably damaging	Het
Ryr3	G	T	2: 112,466,122 (GRCm39)	Q4746K	probably damaging	Het
Sbno1	A	T	5: 124,538,228 (GRCm39)	F571I	probably damaging	Het
Scarf1	T	C	11: 75,416,841 (GRCm39)	V761A	probably benign	Het
Sec22b	T	G	3: 97,828,427 (GRCm39)		probably null	Het
Slc45a2	A	G	15: 11,001,236 (GRCm39)	M112V	probably benign	Het
Snai3	G	A	8: 123,183,071 (GRCm39)	T158M	possibly damaging	Het
Spata31d1a	T	C	13: 59,850,965 (GRCm39)	N388D	probably benign	Het
Speer1e	A	T	5: 11,236,381 (GRCm39)	E138V	probably damaging	Het
Sv2b	T	C	7: 74,767,470 (GRCm39)	N642S	possibly damaging	Het
Svil	T	A	18: 5,056,810 (GRCm39)	I561K	probably benign	Het
Trappc11	A	T	8: 47,943,930 (GRCm39)	D1127E	probably benign	Het
Triobp	C	A	15: 78,851,205 (GRCm39)	A453D	probably benign	Het
Tubd1	T	C	11: 86,448,665 (GRCm39)	L295P	probably damaging	Het
Ulk4	C	T	9: 121,021,852 (GRCm39)	V620I	probably benign	Het
Vmn2r39	A	G	7: 9,026,675 (GRCm39)	I442T	probably benign	Het
Wwc1	T	C	11: 35,767,393 (GRCm39)	T413A	probably benign	Het
Zfyve26	T	C	12: 79,334,607 (GRCm39)	D137G	probably damaging	Het

Other mutations in Zfp131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1444:Zfp131	UTSW	13	120,251,784 (GRCm39)	missense	probably damaging	0.99
R1604:Zfp131	UTSW	13	120,230,316 (GRCm39)	missense	probably damaging	1.00
R1605:Zfp131	UTSW	13	120,230,316 (GRCm39)	missense	probably damaging	1.00
R1712:Zfp131	UTSW	13	120,228,079 (GRCm39)	missense	probably benign	0.00
R1899:Zfp131	UTSW	13	120,228,561 (GRCm39)	missense	probably damaging	0.99
R2207:Zfp131	UTSW	13	120,237,348 (GRCm39)	missense	probably damaging	1.00
R4227:Zfp131	UTSW	13	120,228,282 (GRCm39)	missense	probably damaging	1.00
R4342:Zfp131	UTSW	13	120,237,554 (GRCm39)	missense	probably damaging	0.99
R4852:Zfp131	UTSW	13	120,250,394 (GRCm39)	critical splice donor site	probably null
R4876:Zfp131	UTSW	13	120,250,491 (GRCm39)	missense	possibly damaging	0.88
R5979:Zfp131	UTSW	13	120,237,982 (GRCm39)	missense	probably benign	0.03
R6090:Zfp131	UTSW	13	120,237,532 (GRCm39)	missense	probably damaging	0.99
R6269:Zfp131	UTSW	13	120,227,941 (GRCm39)	missense	possibly damaging	0.86
R6791:Zfp131	UTSW	13	120,228,129 (GRCm39)	missense	probably damaging	0.98
R7147:Zfp131	UTSW	13	120,228,079 (GRCm39)	missense	probably benign	0.00
R7217:Zfp131	UTSW	13	120,237,377 (GRCm39)	missense	probably damaging	0.99
R7809:Zfp131	UTSW	13	120,250,446 (GRCm39)	missense	probably damaging	1.00
R7815:Zfp131	UTSW	13	120,237,516 (GRCm39)	missense	probably damaging	0.99
R8231:Zfp131	UTSW	13	120,237,348 (GRCm39)	missense	probably damaging	0.99
R8308:Zfp131	UTSW	13	120,244,440 (GRCm39)	missense	possibly damaging	0.74
R8890:Zfp131	UTSW	13	120,244,338 (GRCm39)	missense	probably damaging	1.00
R9485:Zfp131	UTSW	13	120,251,885 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCTTAACTAACAGTGCCATTAGC -3'
(R):5'- TAAGTAGTACCGAAATGTGACTAGG -3'

Sequencing Primer
(F):5'- GAAACTCTGCTGCTTTCC -3'
(R):5'- CGAGACAGGATTTCTCTGTATAGTCC -3'

Posted On

2016-05-10