Mutagenetix > Incidental Mutation

Incidental Mutation 'R7661:Zfp839'

591585

Institutional Source

Beutler Lab

Gene Symbol

Zfp839

Ensembl Gene

ENSMUSG00000021271

Gene Name

zinc finger protein 839

Synonyms

2810455K09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7661 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110850253-110869996 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110868792 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 827 (T827I)

Ref Sequence

ENSEMBL: ENSMUSP00000131841 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043716] [ENSMUST00000170060] [ENSMUST00000220607] [ENSMUST00000221182] [ENSMUST00000222460]

AlphaFold

E9PUU5

Predicted Effect

probably benign
Transcript: ENSMUST00000043716

SMART Domains

Protein: ENSMUSP00000035245
Gene: ENSMUSG00000021276

Domain	Start	End	E-Value	Type
low complexity region	54	78	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170060
AA Change: T827I

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131841
Gene: ENSMUSG00000021271
AA Change: T827I

Domain	Start	End	E-Value	Type
low complexity region	271	278	N/A	INTRINSIC
ZnF_C2H2	295	320	3.02e0	SMART
low complexity region	377	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220607

Predicted Effect

probably benign
Transcript: ENSMUST00000221182

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222460
AA Change: T751I

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	A	T	12: 107,488,956	K100N	unknown	Het
9130019O22Rik	A	T	7: 127,384,963	C322*	probably null	Het
Abi3bp	T	A	16: 56,632,900		probably null	Het
Akr1c20	T	C	13: 4,508,219	D210G	probably benign	Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Ascc1	A	C	10: 60,049,807	N227H	probably damaging	Het
Atp5a1	G	T	18: 77,774,102	A18S	possibly damaging	Het
Bcl2l13	A	G	6: 120,865,597	T84A	possibly damaging	Het
Blmh	T	A	11: 76,986,515	V419D	probably damaging	Het
Cacna1d	G	A	14: 30,047,220	P1918S	probably benign	Het
Calr4	T	C	4: 109,253,754	V339A	probably benign	Het
Capza3	C	A	6: 140,041,772	D32E	probably benign	Het
Cldn20	T	A	17: 3,532,858	M102K	possibly damaging	Het
Dennd1a	T	C	2: 37,844,829	Q479R	probably benign	Het
Dpp10	A	T	1: 123,384,952	I432N	probably damaging	Het
Dst	T	A	1: 34,256,353		probably null	Het
Fam135a	C	T	1: 24,072,762		probably null	Het
Fam47e	C	T	5: 92,587,525	L206F	probably damaging	Het
Focad	G	A	4: 88,303,535	R714H	unknown	Het
Gm11639	T	A	11: 104,726,677	D741E	probably benign	Het
Gm5286	C	T	3: 94,198,402	T9I	probably damaging	Het
Gm8693	A	G	7: 22,691,804	S172P	probably benign	Het
Gm9268	T	A	7: 43,023,158	N72K	probably benign	Het
Hace1	T	G	10: 45,605,553	V124G	probably damaging	Het
Ick	G	C	9: 78,167,620	V586L	probably benign	Het
Ifit1bl2	T	A	19: 34,619,028	Y396F	probably damaging	Het
Il22ra2	A	G	10: 19,622,078	I13M	probably benign	Het
Kif21a	A	G	15: 90,980,919	F517L	possibly damaging	Het
Lrrc4	T	C	6: 28,829,763	T618A	probably benign	Het
Mdn1	A	G	4: 32,691,229	T952A	probably benign	Het
Mindy3	A	T	2: 12,397,517	I208K	probably damaging	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Mycbp2	A	G	14: 103,212,623	I1744T	probably damaging	Het
Nanog	A	T	6: 122,713,472	R279W	probably damaging	Het
Ncoa2	T	A	1: 13,174,537	T646S	probably damaging	Het
Ndufa5	A	G	6: 24,518,725	*117R	probably null	Het
Nudt18	A	T	14: 70,579,836	E293D	probably benign	Het
Olfr381	A	G	11: 73,486,600	S75P	probably damaging	Het
Olfr612	A	T	7: 103,538,619	V205E	probably damaging	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pigg	G	A	5: 108,338,619	V713I	probably benign	Het
Pih1d2	T	C	9: 50,618,258		probably null	Het
Ppp2r3d	A	G	9: 124,442,696	F17L		Het
Ptprk	T	C	10: 28,466,040	I481T	probably benign	Het
Pygo2	T	C	3: 89,430,731		probably null	Het
Raet1d	T	C	10: 22,372,257	S225P	possibly damaging	Het
Rnf24	T	C	2: 131,322,215		probably benign	Het
Ror1	A	G	4: 100,441,490	S687G	probably damaging	Het
Rsph9	A	G	17: 46,135,087	S186P	probably damaging	Het
Sash1	C	T	10: 8,729,391	M1078I	probably benign	Het
Scd4	C	A	19: 44,339,071	D195E	probably benign	Het
Syn3	A	G	10: 86,069,076	C348R	probably damaging	Het
Uspl1	T	C	5: 149,215,017	F1009S	probably benign	Het
Vmn1r2	T	A	4: 3,172,149	F23I	probably benign	Het

Other mutations in Zfp839

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Zfp839	APN	12	110865007	critical splice donor site	probably null
IGL00941:Zfp839	APN	12	110860948	missense	probably damaging	1.00
R0013:Zfp839	UTSW	12	110868386	missense	possibly damaging	0.66
R0013:Zfp839	UTSW	12	110868386	missense	possibly damaging	0.66
R0109:Zfp839	UTSW	12	110860874	missense	possibly damaging	0.92
R0116:Zfp839	UTSW	12	110858769	intron	probably benign
R1219:Zfp839	UTSW	12	110868273	missense	possibly damaging	0.63
R1406:Zfp839	UTSW	12	110866310	missense	probably damaging	0.99
R1406:Zfp839	UTSW	12	110866310	missense	probably damaging	0.99
R1434:Zfp839	UTSW	12	110860899	missense	probably benign	0.08
R1653:Zfp839	UTSW	12	110855250	missense	probably benign	0.02
R1754:Zfp839	UTSW	12	110855457	missense	probably damaging	0.98
R2182:Zfp839	UTSW	12	110868338	missense	probably damaging	1.00
R3765:Zfp839	UTSW	12	110855163	missense	probably benign	0.22
R3981:Zfp839	UTSW	12	110866331	missense	probably damaging	0.97
R4756:Zfp839	UTSW	12	110855201	missense	possibly damaging	0.92
R5088:Zfp839	UTSW	12	110868176	missense	probably damaging	0.99
R5394:Zfp839	UTSW	12	110855586	missense	probably benign	0.05
R5619:Zfp839	UTSW	12	110864036	missense	probably damaging	1.00
R6856:Zfp839	UTSW	12	110866761	nonsense	probably null
R7860:Zfp839	UTSW	12	110855626	missense	probably damaging	1.00
R8022:Zfp839	UTSW	12	110855098	missense	probably damaging	1.00
R8855:Zfp839	UTSW	12	110868414	missense	probably benign	0.06
R8866:Zfp839	UTSW	12	110868414	missense	probably benign	0.06
R8896:Zfp839	UTSW	12	110868843	missense	probably damaging	1.00
R9289:Zfp839	UTSW	12	110868444	missense	probably benign	0.04
R9606:Zfp839	UTSW	12	110868342	missense	probably benign
R9668:Zfp839	UTSW	12	110855846	missense	probably damaging	0.98
R9686:Zfp839	UTSW	12	110855498	missense	probably damaging	1.00
Z1177:Zfp839	UTSW	12	110866784	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TCCATAACACTGTGCCTGTG -3'
(R):5'- TCAAGAGCAACACCTTCTGG -3'

Sequencing Primer
(F):5'- AACACTGTGCCTGTGAACATCTTG -3'
(R):5'- TCAGGATAGAACCCCTTGCATTGG -3'

Posted On

2019-11-12