Mutagenetix > Incidental Mutations

Incidental Mutation 'R6407:Zfp74'

514490

Institutional Source

Beutler Lab

Gene Symbol

Zfp74

Ensembl Gene

ENSMUSG00000059975

Gene Name

zinc finger protein 74

Synonyms

KRAB8, 2810054M15Rik, Zfp66

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R6407 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29930815-29954089 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29935623 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 220 (E220G)

Ref Sequence

ENSEMBL: ENSMUSP00000103840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032797] [ENSMUST00000108205] [ENSMUST00000108211] [ENSMUST00000108212]

Predicted Effect

probably damaging
Transcript: ENSMUST00000032797
AA Change: E220G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000032797
Gene: ENSMUSG00000059975
AA Change: E220G

Domain	Start	End	E-Value	Type
KRAB	8	68	5.02e-38	SMART
ZnF_C2H2	179	201	1.84e-4	SMART
ZnF_C2H2	207	229	2.36e-2	SMART
ZnF_C2H2	235	257	1.5e-4	SMART
ZnF_C2H2	263	285	2.79e-4	SMART
ZnF_C2H2	291	313	3.49e-5	SMART
ZnF_C2H2	319	341	6.42e-4	SMART
ZnF_C2H2	347	369	5.59e-4	SMART
ZnF_C2H2	375	397	5.21e-4	SMART
ZnF_C2H2	403	425	3.63e-3	SMART
ZnF_C2H2	431	453	1.82e-3	SMART
ZnF_C2H2	459	481	1.58e-3	SMART
ZnF_C2H2	487	509	2.12e-4	SMART
ZnF_C2H2	515	537	1.82e-3	SMART
ZnF_C2H2	543	565	2.24e-3	SMART
ZnF_C2H2	571	593	8.02e-5	SMART
ZnF_C2H2	599	621	1.04e-3	SMART
ZnF_C2H2	627	649	1.04e-3	SMART
ZnF_C2H2	655	677	9.88e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108205
AA Change: E220G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103840
Gene: ENSMUSG00000059975
AA Change: E220G

Domain	Start	End	E-Value	Type
KRAB	8	68	5.02e-38	SMART
ZnF_C2H2	179	201	1.84e-4	SMART
ZnF_C2H2	207	229	2.36e-2	SMART
ZnF_C2H2	235	257	1.5e-4	SMART
ZnF_C2H2	263	285	2.79e-4	SMART
ZnF_C2H2	291	313	3.49e-5	SMART
ZnF_C2H2	319	341	6.42e-4	SMART
ZnF_C2H2	347	369	5.59e-4	SMART
ZnF_C2H2	375	397	5.21e-4	SMART
ZnF_C2H2	403	425	3.63e-3	SMART
ZnF_C2H2	431	453	1.82e-3	SMART
ZnF_C2H2	459	481	1.58e-3	SMART
ZnF_C2H2	487	509	2.12e-4	SMART
ZnF_C2H2	515	537	1.82e-3	SMART
ZnF_C2H2	543	565	2.24e-3	SMART
ZnF_C2H2	571	593	8.02e-5	SMART
ZnF_C2H2	599	621	1.04e-3	SMART
ZnF_C2H2	627	649	1.04e-3	SMART
ZnF_C2H2	655	677	9.88e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108211

SMART Domains

Protein: ENSMUSP00000103846
Gene: ENSMUSG00000059975

Domain	Start	End	E-Value	Type
KRAB	8	68	5.02e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108212

SMART Domains

Protein: ENSMUSP00000103847
Gene: ENSMUSG00000059975

Domain	Start	End	E-Value	Type
KRAB	8	68	5.02e-38	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149793

Meta Mutation Damage Score

0.2892

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	A	G	10: 82,293,811	S1122P	probably benign	Het
Alpk2	T	C	18: 65,289,738	Y1963C	probably benign	Het
Bptf	T	A	11: 107,111,126	N387Y	probably damaging	Het
C1ql2	T	C	1: 120,341,611	L165P	probably damaging	Het
Col5a2	C	A	1: 45,376,778	C1403F	probably damaging	Het
Gab1	C	A	8: 80,788,597	R364L	possibly damaging	Het
Htr3a	G	T	9: 48,901,055	Y250*	probably null	Het
Ighg2c	T	C	12: 113,288,651	K94E	unknown	Het
Ighg3	T	C	12: 113,360,150	N206S	unknown	Het
Il1f5	A	G	2: 24,281,353	Y151C	probably damaging	Het
Kif22	G	A	7: 127,033,203	R312C	probably damaging	Het
Lap3	T	A	5: 45,511,925	V472E	probably damaging	Het
Mast3	T	C	8: 70,782,128	T762A	probably benign	Het
Mfsd12	T	C	10: 81,362,233		probably null	Het
Mrpl39	T	C	16: 84,732,385	K123R	probably benign	Het
Mup8	T	A	4: 60,220,394	T113S	possibly damaging	Het
Nhp2	T	C	11: 51,619,903	V29A	probably benign	Het
Olfr307	T	C	7: 86,336,069	E109G	possibly damaging	Het
Pex3	T	C	10: 13,546,368	R63G	probably damaging	Het
Pfkl	A	G	10: 77,988,673		probably null	Het
Rims2	T	C	15: 39,452,328	S617P	probably damaging	Het
Rnf223	A	T	4: 156,132,359	T64S	probably damaging	Het
Rrp12	C	T	19: 41,883,742	V432M	probably damaging	Het
Sag	T	C	1: 87,814,806	V100A	probably benign	Het
Slc17a7	C	T	7: 45,169,926	A167V	probably benign	Het
Slc38a6	T	C	12: 73,310,175	F115S	probably damaging	Het
Spdye4a	T	C	5: 143,225,699	T37A	probably benign	Het
Sphk2	T	C	7: 45,712,600	T138A	possibly damaging	Het
Srgap3	T	C	6: 112,723,006	S1004G	probably damaging	Het
Sult1a1	T	C	7: 126,673,184		probably null	Het
Tmem212	A	G	3: 27,884,839	V166A	probably benign	Het
Tor4a	A	G	2: 25,194,940	L317P	probably benign	Het
Trim43c	A	T	9: 88,840,414	T38S	probably benign	Het
Tshz1	C	A	18: 84,015,966	V106F	possibly damaging	Het
Yap1	A	G	9: 7,962,372	M225T	possibly damaging	Het
Zcchc11	G	T	4: 108,558,782	E1648D	probably damaging	Het

Other mutations in Zfp74

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0355:Zfp74	UTSW	7	29954041	start gained	probably benign
R0387:Zfp74	UTSW	7	29934754	missense	probably benign	0.05
R0948:Zfp74	UTSW	7	29935937	critical splice donor site	probably null
R1757:Zfp74	UTSW	7	29935061	missense	probably benign	0.01
R1813:Zfp74	UTSW	7	29935144	missense	probably damaging	1.00
R1893:Zfp74	UTSW	7	29936045	critical splice acceptor site	probably null
R1896:Zfp74	UTSW	7	29935144	missense	probably damaging	1.00
R1958:Zfp74	UTSW	7	29935711	missense	probably benign	0.08
R2092:Zfp74	UTSW	7	29953924	start gained	probably benign
R2111:Zfp74	UTSW	7	29935018	nonsense	probably null
R4894:Zfp74	UTSW	7	29936045	critical splice acceptor site	probably benign
R5121:Zfp74	UTSW	7	29932507	intron	probably null
R5123:Zfp74	UTSW	7	29934733	missense	probably damaging	1.00
R5129:Zfp74	UTSW	7	29932455	missense	probably benign	0.00
R5213:Zfp74	UTSW	7	29935243	missense	probably damaging	1.00
R5460:Zfp74	UTSW	7	29935891	missense	probably benign	0.04
R5519:Zfp74	UTSW	7	29935134	missense	probably damaging	0.99
R5589:Zfp74	UTSW	7	29934565	missense	probably damaging	1.00
R6287:Zfp74	UTSW	7	29935776	missense	probably benign
R6330:Zfp74	UTSW	7	29937987	missense	probably damaging	1.00
R6370:Zfp74	UTSW	7	29932410	missense	probably damaging	0.96
R6694:Zfp74	UTSW	7	29935134	missense	probably damaging	0.99
R6791:Zfp74	UTSW	7	29934435	missense	probably benign	0.02
R7144:Zfp74	UTSW	7	29935165	missense	probably damaging	0.98
R7662:Zfp74	UTSW	7	29953853	critical splice donor site	probably null
R7667:Zfp74	UTSW	7	29935183	missense	probably damaging	1.00
R7898:Zfp74	UTSW	7	29935955	nonsense	probably null
R7981:Zfp74	UTSW	7	29935955	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTCATATGCAGAGCAAGGG -3'
(R):5'- ATGCAGCCATTTCACACCAG -3'

Sequencing Primer
(F):5'- AACTTTCTGATGTGCGACAAGGC -3'
(R):5'- GCCATTTCACACCAGCTCGC -3'

Posted On

2018-05-04