Mutagenetix > Incidental Mutation

Incidental Mutation 'R5503:Zfp78'

430731

Institutional Source

Beutler Lab

Gene Symbol

Zfp78

Ensembl Gene

ENSMUSG00000055150

Gene Name

zinc finger protein 78

Synonyms

KRAB12, Zfp77

MMRRC Submission

043064-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

R5503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6366279-6385604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6381528 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 161 (W161R)

Ref Sequence

ENSEMBL: ENSMUSP00000147228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081022] [ENSMUST00000086323] [ENSMUST00000108559] [ENSMUST00000207314] [ENSMUST00000207347] [ENSMUST00000208030] [ENSMUST00000208390] [ENSMUST00000208763]

AlphaFold

Q5U406

Predicted Effect

probably benign
Transcript: ENSMUST00000081022

SMART Domains

Protein: ENSMUSP00000079812
Gene: ENSMUSG00000062861

Domain	Start	End	E-Value	Type
low complexity region	27	50	N/A	INTRINSIC
KRAB	103	163	3.53e-33	SMART
ZnF_C2H2	377	399	3.95e-4	SMART
ZnF_C2H2	405	427	6.88e-4	SMART
ZnF_C2H2	433	456	1.2e-3	SMART
ZnF_C2H2	462	484	9.58e-3	SMART
ZnF_C2H2	490	512	2.57e-3	SMART
ZnF_C2H2	518	540	1.82e-3	SMART
ZnF_C2H2	546	568	2.4e-3	SMART
ZnF_C2H2	574	596	6.32e-3	SMART
ZnF_C2H2	602	624	1.38e-3	SMART
ZnF_C2H2	630	652	4.87e-4	SMART
ZnF_C2H2	658	680	2.91e-2	SMART
ZnF_C2H2	686	708	2.36e-2	SMART
ZnF_C2H2	714	736	6.42e-4	SMART
ZnF_C2H2	742	764	2.4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086323
AA Change: W161R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
AA Change: W161R

Domain	Start	End	E-Value	Type
KRAB	14	74	1.07e-23	SMART
low complexity region	148	159	N/A	INTRINSIC
ZnF_C2H2	173	195	3.39e-3	SMART
ZnF_C2H2	201	223	2.36e-2	SMART
ZnF_C2H2	229	251	3.63e-3	SMART
ZnF_C2H2	257	279	3.89e-3	SMART
ZnF_C2H2	285	307	3.95e-4	SMART
ZnF_C2H2	313	335	1.69e-3	SMART
ZnF_C2H2	341	363	5.21e-4	SMART
ZnF_C2H2	369	391	1.38e-3	SMART
ZnF_C2H2	397	419	9.88e-5	SMART
ZnF_C2H2	425	447	7.67e-2	SMART
ZnF_C2H2	453	475	6.32e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108559
AA Change: W193R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: W193R

Domain	Start	End	E-Value	Type
KRAB	14	74	3.12e-34	SMART
low complexity region	180	191	N/A	INTRINSIC
ZnF_C2H2	205	227	3.39e-3	SMART
ZnF_C2H2	233	255	2.36e-2	SMART
ZnF_C2H2	261	283	3.63e-3	SMART
ZnF_C2H2	289	311	3.89e-3	SMART
ZnF_C2H2	317	339	3.95e-4	SMART
ZnF_C2H2	345	367	1.69e-3	SMART
ZnF_C2H2	373	395	5.21e-4	SMART
ZnF_C2H2	401	423	1.38e-3	SMART
ZnF_C2H2	429	451	9.88e-5	SMART
ZnF_C2H2	457	479	7.67e-2	SMART
ZnF_C2H2	485	507	6.32e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207314
AA Change: W161R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000207347
AA Change: W193R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208030
AA Change: W161R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208390
AA Change: W161R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000208763

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.4%
20x: 91.5%

Validation Efficiency

96% (103/107)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Abca6	A	G	11: 110,109,083 (GRCm39)	S696P	probably damaging	Het
Abca9	G	A	11: 110,032,436 (GRCm39)	T727M	probably damaging	Het
Alpk2	T	C	18: 65,439,312 (GRCm39)	R1161G	probably benign	Het
Amy1	T	C	3: 113,349,709 (GRCm39)	D487G	probably benign	Het
Arap2	G	A	5: 62,787,529 (GRCm39)	A1409V	probably damaging	Het
B4galt6	C	A	18: 20,878,409 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,014,480 (GRCm39)	G382D	probably damaging	Het
Camk2a	A	G	18: 61,111,072 (GRCm39)	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,620 (GRCm39)	Y492C	probably damaging	Het
Cert1	C	T	13: 96,679,747 (GRCm39)	R26C	possibly damaging	Het
Col18a1	C	T	10: 76,907,454 (GRCm39)	G861D	probably damaging	Het
Crybg1	C	A	10: 43,874,762 (GRCm39)	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,914,125 (GRCm39)	L27F	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dapk1	T	C	13: 60,873,126 (GRCm39)	F343L	probably benign	Het
Dgat1	A	T	15: 76,386,394 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,844,186 (GRCm39)		probably null	Het
Dsg2	T	A	18: 20,713,708 (GRCm39)	Y226*	probably null	Het
Epg5	T	A	18: 77,994,422 (GRCm39)	M351K	possibly damaging	Het
F13b	A	G	1: 139,450,281 (GRCm39)	T648A	probably benign	Het
Fgf17	T	C	14: 70,874,408 (GRCm39)	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,246,124 (GRCm39)	P435S	probably benign	Het
Gfm1	G	A	3: 67,361,060 (GRCm39)		probably null	Het
Gigyf1	T	C	5: 137,521,729 (GRCm39)		probably benign	Het
Gm12830	A	T	4: 114,678,936 (GRCm39)	T6S	unknown	Het
Gm6465	A	T	5: 11,898,150 (GRCm39)	N88I	probably damaging	Het
Gpr18	C	T	14: 122,149,159 (GRCm39)	V289I	probably damaging	Het
Ipp	G	T	4: 116,395,135 (GRCm39)	E557*	probably null	Het
Klhl12	T	A	1: 134,413,653 (GRCm39)		probably null	Het
Klhl38	A	G	15: 58,185,745 (GRCm39)	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,511,802 (GRCm39)	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,957,939 (GRCm39)	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,370,864 (GRCm39)	K118E	probably benign	Het
Marf1	A	C	16: 13,970,095 (GRCm39)	L208R	probably damaging	Het
Misp	G	A	10: 79,662,552 (GRCm39)	R323K	probably damaging	Het
Mlxip	T	A	5: 123,533,390 (GRCm39)	M133K	probably damaging	Het
Mon2	A	T	10: 122,868,550 (GRCm39)	M501K	possibly damaging	Het
Myh2	A	G	11: 67,064,275 (GRCm39)	I77V	probably benign	Het
Napa	C	A	7: 15,849,549 (GRCm39)	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,323,503 (GRCm39)	G1000V	probably damaging	Het
Neo1	A	T	9: 58,892,933 (GRCm39)	S236R	possibly damaging	Het
Neurl4	T	A	11: 69,797,194 (GRCm39)	Y594N	probably damaging	Het
Nmral1	G	A	16: 4,533,493 (GRCm39)	P94L	probably benign	Het
Notch3	A	T	17: 32,366,029 (GRCm39)	I1024N	probably benign	Het
Nsd1	T	A	13: 55,393,752 (GRCm39)	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,323,883 (GRCm39)	D143G	probably benign	Het
Oplah	A	G	15: 76,189,646 (GRCm39)		probably null	Het
Or13a17	A	C	7: 140,271,309 (GRCm39)	M164L	probably benign	Het
Or2ak4	T	A	11: 58,649,154 (GRCm39)	V221E	probably damaging	Het
Or6b2b	C	A	1: 92,418,918 (GRCm39)	K186N	probably benign	Het
Or7d10	A	G	9: 19,831,675 (GRCm39)	T57A	probably benign	Het
Or8b48	T	C	9: 38,493,368 (GRCm39)	V265A	probably benign	Het
Or8g19	A	G	9: 39,055,780 (GRCm39)	N128S	probably benign	Het
Phb2	T	A	6: 124,689,985 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,816,957 (GRCm39)	I108V	probably benign	Het
Plpp6	T	A	19: 28,942,146 (GRCm39)	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,088,156 (GRCm39)	G189E	probably damaging	Het
Pramel17	A	T	4: 101,692,999 (GRCm39)	Y334N	probably benign	Het
Ptprn	C	T	1: 75,228,519 (GRCm39)	V853M	probably damaging	Het
Ptprq	T	C	10: 107,524,189 (GRCm39)		probably null	Het
Rai1	G	A	11: 60,077,279 (GRCm39)	V448I	probably benign	Het
Rbm20	T	A	19: 53,839,785 (GRCm39)	C925S	possibly damaging	Het
Rin3	C	A	12: 102,279,314 (GRCm39)	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,505 (GRCm39)		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,543,561 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,783,879 (GRCm39)	D133E	probably benign	Het
Ryr1	T	C	7: 28,768,453 (GRCm39)	K2839E	possibly damaging	Het
Septin5	T	C	16: 18,442,118 (GRCm39)	K268R	probably benign	Het
Serpinb6b	T	A	13: 33,161,642 (GRCm39)	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,582,747 (GRCm39)	V214M	probably damaging	Het
Smarca2	T	C	19: 26,601,336 (GRCm39)	M18T	probably damaging	Het
Smarca2	C	A	19: 26,659,446 (GRCm39)	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,232,101 (GRCm39)	R46S	possibly damaging	Het
Spa17	A	C	9: 37,523,273 (GRCm39)	F5V	probably damaging	Het
Spag17	A	G	3: 99,934,560 (GRCm39)	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,083,635 (GRCm39)	V314D	probably damaging	Het
Trappc8	A	T	18: 20,969,957 (GRCm39)	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,800,028 (GRCm39)	*691Q	probably null	Het
Vav1	A	T	17: 57,610,079 (GRCm39)	K420*	probably null	Het
Vmn1r174	C	G	7: 23,453,562 (GRCm39)	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,605,778 (GRCm39)	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,312 (GRCm39)	T637A	probably damaging	Het
Zbtb7a	A	G	10: 80,980,631 (GRCm39)	E275G	probably damaging	Het
Zfp280b	A	G	10: 75,875,296 (GRCm39)		probably null	Het
Zfp763	A	G	17: 33,238,507 (GRCm39)	Y213H	possibly damaging	Het

Other mutations in Zfp78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01023:Zfp78	APN	7	6,378,587 (GRCm39)	missense	possibly damaging	0.90
R0502:Zfp78	UTSW	7	6,376,157 (GRCm39)	missense	probably damaging	1.00
R0704:Zfp78	UTSW	7	6,382,251 (GRCm39)	missense	probably damaging	1.00
R1035:Zfp78	UTSW	7	6,381,660 (GRCm39)	missense	probably damaging	1.00
R1402:Zfp78	UTSW	7	6,381,618 (GRCm39)	missense	probably damaging	1.00
R1402:Zfp78	UTSW	7	6,381,618 (GRCm39)	missense	probably damaging	1.00
R1908:Zfp78	UTSW	7	6,381,897 (GRCm39)	missense	probably damaging	0.97
R1955:Zfp78	UTSW	7	6,381,558 (GRCm39)	missense	probably benign	0.00
R2004:Zfp78	UTSW	7	6,382,074 (GRCm39)	missense	probably damaging	1.00
R2025:Zfp78	UTSW	7	6,378,513 (GRCm39)	splice site	probably null
R2357:Zfp78	UTSW	7	6,382,056 (GRCm39)	missense	probably damaging	1.00
R6742:Zfp78	UTSW	7	6,381,277 (GRCm39)	missense	probably damaging	0.97
R6996:Zfp78	UTSW	7	6,381,764 (GRCm39)	missense	probably benign	0.38
R7944:Zfp78	UTSW	7	6,381,589 (GRCm39)	missense	possibly damaging	0.53
R7949:Zfp78	UTSW	7	6,382,365 (GRCm39)	missense	possibly damaging	0.89
R8186:Zfp78	UTSW	7	6,376,228 (GRCm39)	missense	probably damaging	1.00
R8272:Zfp78	UTSW	7	6,376,213 (GRCm39)	missense	probably benign	0.01
R8429:Zfp78	UTSW	7	6,381,492 (GRCm39)	missense	probably benign	0.05
R8675:Zfp78	UTSW	7	6,381,280 (GRCm39)	missense	probably benign	0.16
R8959:Zfp78	UTSW	7	6,382,380 (GRCm39)	missense	probably damaging	0.97
R9184:Zfp78	UTSW	7	6,382,300 (GRCm39)	missense	probably damaging	0.96
R9289:Zfp78	UTSW	7	6,381,367 (GRCm39)	missense	probably benign	0.03
R9343:Zfp78	UTSW	7	6,381,942 (GRCm39)	missense	probably damaging	1.00
R9364:Zfp78	UTSW	7	6,382,354 (GRCm39)	missense	probably benign	0.04
R9406:Zfp78	UTSW	7	6,382,182 (GRCm39)	missense	probably benign	0.03
R9564:Zfp78	UTSW	7	6,381,390 (GRCm39)	missense	probably benign	0.20
R9615:Zfp78	UTSW	7	6,382,074 (GRCm39)	missense	probably damaging	1.00
R9616:Zfp78	UTSW	7	6,382,078 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- GCAGAAATGCAAAGACCTTCTG -3'
(R):5'- CACTGGAAGAGTTTCTCGTGG -3'

Sequencing Primer
(F):5'- CCTTCTGGATAGACAGATGAGTC -3'
(R):5'- GTGTGGTGCTGAGCCAG -3'

Posted On

2016-10-05