Mutagenetix > Incidental Mutation

Incidental Mutation 'R5978:Zfp91'

481272

Institutional Source

Beutler Lab

Gene Symbol

Zfp91

Ensembl Gene

ENSMUSG00000024695

Gene Name

zinc finger protein 91

Synonyms

Pzf, 9130014I08Rik, A530054C17Rik

MMRRC Submission

044160-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.488) question?

Stock #

R5978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12744384-12773490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12747515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 536 (I536T)

Ref Sequence

ENSEMBL: ENSMUSP00000037971 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038627] [ENSMUST00000112933] [ENSMUST00000142247]

AlphaFold

Q62511

Predicted Effect

probably benign
Transcript: ENSMUST00000038627
AA Change: I536T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037971
Gene: ENSMUSG00000024695
AA Change: I536T

Domain	Start	End	E-Value	Type
low complexity region	21	27	N/A	INTRINSIC
low complexity region	35	43	N/A	INTRINSIC
low complexity region	72	92	N/A	INTRINSIC
low complexity region	98	114	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
low complexity region	143	167	N/A	INTRINSIC
low complexity region	207	226	N/A	INTRINSIC
coiled coil region	256	284	N/A	INTRINSIC
ZnF_C2H2	313	338	1.08e-1	SMART
ZnF_C2H2	344	368	7.15e-2	SMART
ZnF_C2H2	374	396	1.56e-2	SMART
ZnF_C2H2	402	424	2.61e-4	SMART
ZnF_C2H2	432	455	1.92e-2	SMART
low complexity region	459	471	N/A	INTRINSIC
low complexity region	491	502	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112933

SMART Domains

Protein: ENSMUSP00000108555
Gene: ENSMUSG00000079415

Domain	Start	End	E-Value	Type
Pfam:CNTF	1	194	4.2e-109	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137256

Predicted Effect

probably benign
Transcript: ENSMUST00000142247

SMART Domains

Protein: ENSMUSP00000124424
Gene: ENSMUSG00000024695

Domain	Start	End	E-Value	Type
low complexity region	21	27	N/A	INTRINSIC
low complexity region	35	43	N/A	INTRINSIC
low complexity region	72	92	N/A	INTRINSIC
low complexity region	98	114	N/A	INTRINSIC
low complexity region	120	135	N/A	INTRINSIC
low complexity region	143	167	N/A	INTRINSIC
low complexity region	207	226	N/A	INTRINSIC
coiled coil region	256	284	N/A	INTRINSIC
ZnF_C2H2	313	338	1.08e-1	SMART
ZnF_C2H2	344	368	7.15e-2	SMART
ZnF_C2H2	374	396	1.56e-2	SMART
ZnF_C2H2	402	424	2.61e-4	SMART
ZnF_C2H2	432	455	1.92e-2	SMART
low complexity region	459	471	N/A	INTRINSIC
low complexity region	491	502	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the zinc finger family of proteins. The gene product contains C2H2-type domains, which are the classical zinc finger domains found in numerous nucleic acid-binding proteins. The homologous human protein has been shown to function as a regulator of the non-canonical NF-kappaB pathway in lymphotoxin-beta receptor signaling. A read-through transcript variant composed of Zfp91 and the downstream Cntf gene sequence has been identified, but it is thought to be non-coding. Read-through transcription of Zfp91 and Cntf has been observed in both human and mouse. A Zfp91-related pseudogene has also been identified on chromosome 17. [provided by RefSeq, Oct 2010]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anks6	T	A	4: 47,049,252 (GRCm39)	S218C	probably damaging	Het
Atp2c2	G	A	8: 120,476,614 (GRCm39)		probably null	Het
Ccdc146	T	G	5: 21,521,966 (GRCm39)	I353L	probably benign	Het
Cst3	A	T	2: 148,714,741 (GRCm39)	M112K	probably benign	Het
Cst3	T	G	2: 148,714,742 (GRCm39)	M112L	probably benign	Het
Cyp2j11	A	C	4: 96,207,589 (GRCm39)	L242R	probably damaging	Het
Eif5b	T	C	1: 38,037,361 (GRCm39)		probably null	Het
Espl1	A	G	15: 102,224,209 (GRCm39)	I1253M	possibly damaging	Het
Fstl5	C	T	3: 76,052,392 (GRCm39)	H41Y	probably damaging	Het
Gm11011	T	C	2: 169,426,361 (GRCm39)	K84R	unknown	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Heatr5b	C	A	17: 79,113,465 (GRCm39)	V923F	probably damaging	Het
Hnrnpll	G	A	17: 80,341,620 (GRCm39)	T473M	probably damaging	Het
Iars1	T	A	13: 49,876,469 (GRCm39)	Y845N	probably damaging	Het
Il34	T	A	8: 111,469,317 (GRCm39)	D166V	probably damaging	Het
Kel	T	A	6: 41,664,979 (GRCm39)	H595L	probably benign	Het
Krt77	T	C	15: 101,771,363 (GRCm39)	I313M	probably benign	Het
Krt84	T	C	15: 101,438,665 (GRCm39)	E274G	probably damaging	Het
Mctp2	T	C	7: 71,739,936 (GRCm39)	Y818C	probably damaging	Het
Mrc1	A	T	2: 14,320,204 (GRCm39)	Y1046F	probably damaging	Het
Myom1	A	T	17: 71,424,438 (GRCm39)	D1429V	probably damaging	Het
Ncapg2	T	C	12: 116,388,291 (GRCm39)	M325T	possibly damaging	Het
Nf1	T	A	11: 79,431,245 (GRCm39)	I1902N	probably damaging	Het
Nkain3	A	T	4: 20,485,026 (GRCm39)		probably null	Het
Nlrc5	A	T	8: 95,215,221 (GRCm39)	N940Y	probably damaging	Het
Nlrp9a	T	A	7: 26,256,703 (GRCm39)	I107K	probably damaging	Het
Ntn5	T	C	7: 45,343,437 (GRCm39)	S328P	possibly damaging	Het
Or1j17	A	C	2: 36,578,694 (GRCm39)	K227Q	probably benign	Het
Parp8	A	C	13: 117,032,268 (GRCm39)	S302A	probably benign	Het
Ptgr2	G	T	12: 84,342,032 (GRCm39)	E27*	probably null	Het
Rnf115	T	A	3: 96,695,982 (GRCm39)	I256N	probably damaging	Het
Ryr3	T	A	2: 112,502,614 (GRCm39)	H3515L	probably benign	Het
Scel	A	G	14: 103,766,690 (GRCm39)		probably null	Het
Slc4a5	T	A	6: 83,254,518 (GRCm39)	S572T	probably benign	Het
Slc4a9	T	G	18: 36,668,456 (GRCm39)	I705S	probably damaging	Het
Spint4	C	T	2: 164,542,252 (GRCm39)	P101L	probably damaging	Het
Syt9	T	A	7: 107,035,620 (GRCm39)	D212E	probably benign	Het
Tmem39a	T	A	16: 38,411,392 (GRCm39)	M449K	probably benign	Het
Ttn	T	C	2: 76,639,143 (GRCm39)	T13877A	possibly damaging	Het
Ube2v2	T	C	16: 15,394,991 (GRCm39)	N20S	probably benign	Het
Vmn1r14	C	T	6: 57,210,929 (GRCm39)	S169F	probably benign	Het
Vps13d	T	C	4: 144,849,181 (GRCm39)	H2410R	probably benign	Het
Wdr81	G	A	11: 75,335,224 (GRCm39)	L1781F	probably damaging	Het

Other mutations in Zfp91

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02240:Zfp91	APN	19	12,753,770 (GRCm39)	splice site	probably benign
R0139:Zfp91	UTSW	19	12,747,834 (GRCm39)	missense	probably damaging	1.00
R0369:Zfp91	UTSW	19	12,747,438 (GRCm39)	missense	possibly damaging	0.95
R0485:Zfp91	UTSW	19	12,753,353 (GRCm39)	splice site	probably benign
R0559:Zfp91	UTSW	19	12,747,419 (GRCm39)	missense	probably damaging	1.00
R0597:Zfp91	UTSW	19	12,747,459 (GRCm39)	missense	possibly damaging	0.53
R1565:Zfp91	UTSW	19	12,756,439 (GRCm39)	missense	probably benign	0.02
R3422:Zfp91	UTSW	19	12,747,656 (GRCm39)	missense	probably benign	0.24
R4438:Zfp91	UTSW	19	12,755,385 (GRCm39)	nonsense	probably null
R4898:Zfp91	UTSW	19	12,747,424 (GRCm39)	missense	probably damaging	1.00
R4927:Zfp91	UTSW	19	12,753,774 (GRCm39)	critical splice donor site	probably null
R5509:Zfp91	UTSW	19	12,756,451 (GRCm39)	missense	probably damaging	0.99
R5878:Zfp91	UTSW	19	12,747,684 (GRCm39)	missense	possibly damaging	0.80
R7703:Zfp91	UTSW	19	12,754,241 (GRCm39)	missense	probably benign	0.24
R7864:Zfp91	UTSW	19	12,748,403 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGCAGGCCCTTCAGTTATTTTAC -3'
(R):5'- CAGCACAGATATCTTGGGCAC -3'

Sequencing Primer
(F):5'- TCTTCCTTTGCACTAGGG -3'
(R):5'- GCACAGATATCTTGGGCACTAACC -3'

Posted On

2017-06-26