Mutagenetix > Incidental Mutations

Incidental Mutation 'R7661:Zfp839'

591585

Institutional Source

Beutler Lab

Gene Symbol

Zfp839

Ensembl Gene

ENSMUSG00000021271

Gene Name

zinc finger protein 839

Synonyms

2810455K09Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) 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

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]

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
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