Mutagenetix > Incidental Mutation

Incidental Mutation 'R9289:Zfp78'

704138

Institutional Source

Beutler Lab

Gene Symbol

Zfp78

Ensembl Gene

ENSMUSG00000055150

Gene Name

zinc finger protein 78

Synonyms

KRAB12, Zfp77

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R9289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6366279-6385604 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6381367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 139 (I139T)

Ref Sequence

ENSEMBL: ENSMUSP00000147154 (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: I107T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000083503
Gene: ENSMUSG00000055150
AA Change: I107T

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: I139T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104199
Gene: ENSMUSG00000055150
AA Change: I139T

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: I107T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000207347
AA Change: I139T

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

probably benign
Transcript: ENSMUST00000208030
AA Change: I107T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000208390
AA Change: I107T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000208763

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,982,333 (GRCm39)	T306I	probably benign	Het
Aurkb	T	C	11: 68,941,175 (GRCm39)	I250T	probably damaging	Het
C1qtnf1	A	G	11: 118,334,672 (GRCm39)	T51A	probably benign	Het
C1rb	G	T	6: 124,552,272 (GRCm39)	R330L	possibly damaging	Het
Cd8b1	G	A	6: 71,306,777 (GRCm39)		probably null	Het
Cep57l1	A	T	10: 41,607,082 (GRCm39)	D160E	probably damaging	Het
Ces1f	C	T	8: 93,992,491 (GRCm39)	S320N	probably benign	Het
Cfap54	A	G	10: 92,656,936 (GRCm39)	S3039P	possibly damaging	Het
Chia1	A	T	3: 106,022,502 (GRCm39)		probably benign	Het
Chka	T	G	19: 3,935,953 (GRCm39)	F220V	possibly damaging	Het
Cmtm2b	A	G	8: 105,048,980 (GRCm39)		probably benign	Het
Dgcr8	C	T	16: 18,098,079 (GRCm39)		probably benign	Het
Dhx30	T	C	9: 109,920,603 (GRCm39)	T304A	possibly damaging	Het
Dhx30	A	T	9: 109,922,189 (GRCm39)	D164E	probably benign	Het
Dip2b	A	T	15: 100,071,152 (GRCm39)	K661I	probably damaging	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Dop1b	T	A	16: 93,568,681 (GRCm39)	L1581H	probably damaging	Het
Fam219a	C	A	4: 41,521,942 (GRCm39)	G46V	probably damaging	Het
Fer1l6	G	A	15: 58,490,766 (GRCm39)	V1028M	probably damaging	Het
Glb1	C	A	9: 114,249,558 (GRCm39)	A129E	probably damaging	Het
Heatr1	T	C	13: 12,447,608 (GRCm39)	V1767A	probably benign	Het
Ift88	T	A	14: 57,718,199 (GRCm39)	S591T	probably benign	Het
Itgb4	A	G	11: 115,885,187 (GRCm39)	K1023R	probably benign	Het
Mfng	C	A	15: 78,643,457 (GRCm39)	S250I	probably damaging	Het
Mmp9	A	G	2: 164,796,800 (GRCm39)	T723A	probably benign	Het
Mzf1	T	A	7: 12,785,534 (GRCm39)	H299L	probably benign	Het
Naa40	T	C	19: 7,211,485 (GRCm39)	K47E	possibly damaging	Het
Ncdn	A	C	4: 126,643,903 (GRCm39)	F306L	possibly damaging	Het
Notch3	A	G	17: 32,377,254 (GRCm39)	C246R	probably damaging	Het
Npc1l1	A	T	11: 6,168,355 (GRCm39)	Y945*	probably null	Het
Or2av9	T	A	11: 58,380,745 (GRCm39)	I279L	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or2y14	C	T	11: 49,404,635 (GRCm39)	P57S	probably damaging	Het
Or52n5	T	C	7: 104,587,816 (GRCm39)	W28R	probably damaging	Het
Pcnx1	C	A	12: 82,028,853 (GRCm39)	D1044E		Het
Pgm2l1	T	A	7: 99,919,629 (GRCm39)	I575K	probably damaging	Het
Plat	T	C	8: 23,272,100 (GRCm39)	I553T	probably damaging	Het
Prrc2c	A	G	1: 162,507,130 (GRCm39)	V2513A	probably benign	Het
Qser1	A	T	2: 104,617,593 (GRCm39)	V983E	possibly damaging	Het
Ring1	A	G	17: 34,241,547 (GRCm39)	S190P	possibly damaging	Het
Rnf150	A	G	8: 83,716,982 (GRCm39)	E163G	probably benign	Het
Scgb2b12	T	C	7: 32,026,060 (GRCm39)	H44R	probably benign	Het
Septin4	T	A	11: 87,459,792 (GRCm39)	C513*	probably null	Het
Shtn1	T	C	19: 58,998,257 (GRCm39)	K379E	probably damaging	Het
Slc52a2	G	T	15: 76,424,475 (GRCm39)	V238L	probably benign	Het
Smg1	T	C	7: 117,744,639 (GRCm39)	H3171R	possibly damaging	Het
Tada3	A	G	6: 113,347,264 (GRCm39)	V342A	possibly damaging	Het
Tbc1d20	T	C	2: 152,153,262 (GRCm39)	V264A	probably damaging	Het
Tmco5	G	A	2: 116,710,745 (GRCm39)	A22T	probably benign	Het
Tmem63b	A	G	17: 45,975,697 (GRCm39)	F549S	probably benign	Het
Trav16d-dv11	T	C	14: 53,285,086 (GRCm39)	F54S	probably benign	Het
Trim7	A	T	11: 48,736,281 (GRCm39)	K5*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Zfp839	T	A	12: 110,834,878 (GRCm39)	V711D	probably benign	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
R5503:Zfp78	UTSW	7	6,381,528 (GRCm39)	missense	probably benign
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
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'- ACTCCACTTGAAGTGCTGC -3'
(R):5'- TTGAAGGCCTTTCCGCAGAC -3'

Sequencing Primer
(F):5'- CCACTTGAAGTGCTGCTTTTG -3'
(R):5'- TCTCTGGTGAACTGTAACAGC -3'

Posted On

2022-03-25