Mutagenetix > Incidental Mutation

Incidental Mutation 'R1565:Zfp91'

175236

Institutional Source

Beutler Lab

Gene Symbol

Zfp91

Ensembl Gene

ENSMUSG00000024695

Gene Name

zinc finger protein 91

Synonyms

Pzf, 9130014I08Rik, A530054C17Rik

MMRRC Submission

039604-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.482) question?

Stock #

R1565 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12744384-12773490 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12756439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 135 (D135G)

Ref Sequence

ENSEMBL: ENSMUSP00000124424 (fasta)

Gene Model

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

AlphaFold

Q62511

Predicted Effect

probably benign
Transcript: ENSMUST00000038627
AA Change: D135G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000037971
Gene: ENSMUSG00000024695
AA Change: D135G

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

noncoding transcript
Transcript: ENSMUST00000137256

Predicted Effect

probably benign
Transcript: ENSMUST00000142247
AA Change: D135G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124424
Gene: ENSMUSG00000024695
AA Change: D135G

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

Meta Mutation Damage Score

0.0736

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.0%

Validation Efficiency

96% (82/85)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,327 (GRCm39)	G270S	probably benign	Het
Abtb1	T	C	6: 88,813,536 (GRCm39)	T401A	probably benign	Het
Adamts14	A	T	10: 61,106,676 (GRCm39)	M148K	probably damaging	Het
Adcy5	A	G	16: 35,089,327 (GRCm39)	E508G	probably damaging	Het
Ankfy1	T	A	11: 72,648,144 (GRCm39)	L875H	probably damaging	Het
Cacng3	A	T	7: 122,367,624 (GRCm39)	D168V	probably damaging	Het
Clpb	G	A	7: 101,434,668 (GRCm39)	R488Q	probably benign	Het
Cltrn	A	G	X: 162,901,230 (GRCm39)	D184G	possibly damaging	Het
Cpxm2	A	T	7: 131,663,874 (GRCm39)	Y350N	probably damaging	Het
D130040H23Rik	T	A	8: 69,755,812 (GRCm39)	*406R	probably null	Het
Dnah10	T	A	5: 124,906,678 (GRCm39)	D4236E	probably damaging	Het
Dpf3	T	A	12: 83,417,391 (GRCm39)	Y27F	probably damaging	Het
Esp4	T	C	17: 40,913,486 (GRCm39)	*118Q	probably null	Het
Fam222b	T	C	11: 78,045,488 (GRCm39)	S222P	possibly damaging	Het
Flnc	T	C	6: 29,455,170 (GRCm39)	V1933A	probably damaging	Het
Gem	T	C	4: 11,713,709 (GRCm39)	F282L	possibly damaging	Het
Gli2	T	C	1: 118,769,660 (GRCm39)	T631A	possibly damaging	Het
Gpld1	T	A	13: 25,140,051 (GRCm39)	V116E	probably damaging	Het
Gpr176	A	G	2: 118,110,695 (GRCm39)	M188T	probably benign	Het
Grk5	T	C	19: 61,078,410 (GRCm39)	V489A	probably damaging	Het
Hpdl	T	C	4: 116,678,080 (GRCm39)	N127S	probably damaging	Het
Hsd17b8	C	T	17: 34,246,469 (GRCm39)	V105I	possibly damaging	Het
Id4	G	T	13: 48,415,770 (GRCm39)	V151L	possibly damaging	Het
Kcnh8	G	T	17: 53,263,909 (GRCm39)	G802V	probably benign	Het
Lamc1	C	A	1: 153,118,489 (GRCm39)	S894I	probably benign	Het
Larp1b	A	G	3: 40,926,819 (GRCm39)	N184S	probably damaging	Het
Lhx1	A	T	11: 84,410,647 (GRCm39)	S226T	probably benign	Het
Lmo7	A	T	14: 102,124,957 (GRCm39)	Q472L	probably damaging	Het
Mog	G	C	17: 37,328,474 (GRCm39)	N152K	possibly damaging	Het
Mttp	A	G	3: 137,822,166 (GRCm39)		probably null	Het
Mycbp2	A	G	14: 103,489,945 (GRCm39)	V953A	possibly damaging	Het
Myo3a	A	T	2: 22,345,091 (GRCm39)	Y509F	probably damaging	Het
Myo9b	A	G	8: 71,767,836 (GRCm39)	N303S	possibly damaging	Het
Nek3	T	C	8: 22,622,217 (GRCm39)		probably null	Het
Nlrc4	A	T	17: 74,748,926 (GRCm39)	D771E	probably benign	Het
Nup160	A	T	2: 90,552,405 (GRCm39)	N1127I	possibly damaging	Het
Oas1h	A	T	5: 121,000,663 (GRCm39)	N91I	probably damaging	Het
Or13p4	T	A	4: 118,547,389 (GRCm39)	N87Y	probably damaging	Het
Or4c120	A	T	2: 89,000,971 (GRCm39)	V195D	probably benign	Het
Or4c121	G	T	2: 89,024,227 (GRCm39)	S50R	probably damaging	Het
Parp4	T	C	14: 56,827,329 (GRCm39)		probably benign	Het
Pi4ka	G	A	16: 17,099,764 (GRCm39)	C96Y	probably null	Het
Pira2	A	T	7: 3,847,548 (GRCm39)	F47Y	probably damaging	Het
Pkhd1	C	A	1: 20,417,681 (GRCm39)	G2490V	probably damaging	Het
Plekhg1	C	T	10: 3,890,526 (GRCm39)	T394I	probably damaging	Het
Pramel22	G	A	4: 143,382,187 (GRCm39)	Q170*	probably null	Het
Psmd1	T	C	1: 86,019,719 (GRCm39)		probably benign	Het
Rab3ip	A	T	10: 116,775,128 (GRCm39)	C77S	probably benign	Het
Reln	A	T	5: 22,130,211 (GRCm39)	M2700K	probably benign	Het
Rfx1	A	G	8: 84,800,575 (GRCm39)	T59A	probably benign	Het
Ric8b	G	T	10: 84,815,963 (GRCm39)	V405L	probably benign	Het
Rufy3	G	T	5: 88,788,491 (GRCm39)	A479S	probably damaging	Het
Sardh	A	T	2: 27,132,731 (GRCm39)	Y166N	probably damaging	Het
Slamf6	T	G	1: 171,761,975 (GRCm39)	V132G	possibly damaging	Het
Slc12a3	T	G	8: 95,072,505 (GRCm39)	H674Q	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Srsf9	A	G	5: 115,465,429 (GRCm39)	N21S	possibly damaging	Het
Stkld1	A	T	2: 26,840,102 (GRCm39)	T391S	probably benign	Het
Sumf2	C	A	5: 129,888,755 (GRCm39)	N230K	probably damaging	Het
Tbc1d22a	T	C	15: 86,119,770 (GRCm39)	V22A	possibly damaging	Het
Thsd7b	T	A	1: 129,523,778 (GRCm39)	S194T	possibly damaging	Het
Tnn	T	A	1: 159,924,835 (GRCm39)	Y1173F	probably damaging	Het
Top2a	A	G	11: 98,891,880 (GRCm39)	F1122L	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trim39	G	A	17: 36,579,746 (GRCm39)	R70W	probably damaging	Het
Ttn	G	A	2: 76,624,605 (GRCm39)	T15289I	probably damaging	Het
Ugt2b38	A	T	5: 87,559,773 (GRCm39)	V373E	probably damaging	Het
Usp54	A	G	14: 20,657,227 (GRCm39)	S24P	probably damaging	Het
Vmn2r27	C	T	6: 124,208,593 (GRCm39)	G51S	probably benign	Het
Xylt2	C	T	11: 94,558,420 (GRCm39)	A579T	probably benign	Het
Zbtb21	A	G	16: 97,753,627 (GRCm39)	S247P	probably benign	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfp251	T	A	15: 76,737,238 (GRCm39)	R613S	probably damaging	Het
Zfp251	C	T	15: 76,737,239 (GRCm39)	R613K	possibly 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
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
R5978:Zfp91	UTSW	19	12,747,515 (GRCm39)	missense	probably benign	0.43
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'- TTGCAGACGAGTTGCAAGGAGC -3'
(R):5'- GGATTATTGGGATGCTGCCTACCAC -3'

Sequencing Primer
(F):5'- AGCCAGTCTTGGACCTAGAG -3'
(R):5'- aaacccccaaagaccacc -3'

Posted On

2014-04-24