Mutagenetix > Incidental Mutation

Incidental Mutation 'R7876:Zkscan5'

608430

Institutional Source

Beutler Lab

Gene Symbol

Zkscan5

Ensembl Gene

ENSMUSG00000055991

Gene Name

zinc finger with KRAB and SCAN domains 5

Synonyms

hKraba1, Zfp95

MMRRC Submission

045928-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R7876 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145141372-145158560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 145157676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 726 (H726P)

Ref Sequence

ENSEMBL: ENSMUSP00000082814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031601] [ENSMUST00000085671] [ENSMUST00000161896]

AlphaFold

Q9Z1D8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031601
AA Change: H653P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031601
Gene: ENSMUSG00000055991
AA Change: H653P

Domain	Start	End	E-Value	Type
SCAN	46	155	2.18e-69	SMART
ZnF_C2H2	268	290	3.58e-2	SMART
ZnF_C2H2	296	318	9.73e-4	SMART
ZnF_C2H2	324	346	1.45e-2	SMART
ZnF_C2H2	352	374	1.28e-3	SMART
ZnF_C2H2	467	489	1.82e-3	SMART
ZnF_C2H2	495	517	3.63e-3	SMART
ZnF_C2H2	523	545	7.78e-3	SMART
ZnF_C2H2	551	573	9.73e-4	SMART
ZnF_C2H2	579	601	1.08e-1	SMART
ZnF_C2H2	635	657	1.12e-3	SMART
ZnF_C2H2	691	713	5.14e-3	SMART
ZnF_C2H2	719	741	2.4e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000085671
AA Change: H726P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082814
Gene: ENSMUSG00000055991
AA Change: H726P

Domain	Start	End	E-Value	Type
SCAN	46	155	2.18e-69	SMART
KRAB	216	276	5.35e-3	SMART
ZnF_C2H2	341	363	3.58e-2	SMART
ZnF_C2H2	369	391	9.73e-4	SMART
ZnF_C2H2	397	419	1.45e-2	SMART
ZnF_C2H2	425	447	1.28e-3	SMART
ZnF_C2H2	540	562	1.82e-3	SMART
ZnF_C2H2	568	590	3.63e-3	SMART
ZnF_C2H2	596	618	7.78e-3	SMART
ZnF_C2H2	624	646	9.73e-4	SMART
ZnF_C2H2	652	674	1.08e-1	SMART
ZnF_C2H2	708	730	1.12e-3	SMART
ZnF_C2H2	764	786	5.14e-3	SMART
ZnF_C2H2	792	814	2.4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161881

SMART Domains

Protein: ENSMUSP00000124544
Gene: ENSMUSG00000055991

Domain	Start	End	E-Value	Type
KRAB	59	118	2.71e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161896

SMART Domains

Protein: ENSMUSP00000124838
Gene: ENSMUSG00000055991

Domain	Start	End	E-Value	Type
SCAN	46	155	1.59e-62	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162168

Meta Mutation Damage Score

0.9422

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein of the Kruppel family. The protein contains a SCAN box and a KRAB A domain and may be involved in transcriptional regulation. A similar protein in mouse is differentially expressed in spermatogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,760,439 (GRCm39)	K65R	probably benign	Het
Adprhl1	T	C	8: 13,273,509 (GRCm39)	D1083G	probably benign	Het
Aox1	C	T	1: 58,101,330 (GRCm39)	Q434*	probably null	Het
Atp13a5	T	A	16: 29,140,566 (GRCm39)	N330I	possibly damaging	Het
Brd8	A	G	18: 34,739,740 (GRCm39)	F678L	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C87436	T	A	6: 86,423,411 (GRCm39)		probably null	Het
Cacna1h	A	T	17: 25,594,225 (GRCm39)	I2311K	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cux1	T	C	5: 136,392,161 (GRCm39)	T187A	probably benign	Het
Dip2b	A	G	15: 100,088,922 (GRCm39)	I1031V	probably benign	Het
Efna5	T	C	17: 62,957,929 (GRCm39)	N109S	possibly damaging	Het
Fat2	A	T	11: 55,202,046 (GRCm39)	S343T	probably benign	Het
Fubp1	T	C	3: 151,937,928 (GRCm39)	Y654H	unknown	Het
Gbe1	G	A	16: 70,238,059 (GRCm39)	V282I	probably benign	Het
Grik1	T	C	16: 87,720,121 (GRCm39)	K719E		Het
Grm6	A	T	11: 50,750,457 (GRCm39)	Y540F	probably damaging	Het
Hmcn1	C	T	1: 150,620,722 (GRCm39)	V1163I	probably benign	Het
Igkv4-53	T	A	6: 69,625,987 (GRCm39)	Q60L	possibly damaging	Het
Igkv4-59	A	T	6: 69,415,337 (GRCm39)	S73T	probably damaging	Het
Il1a	A	C	2: 129,142,762 (GRCm39)	W228G	probably damaging	Het
Klk13	A	G	7: 43,370,403 (GRCm39)	D22G	probably benign	Het
Kntc1	T	A	5: 123,913,850 (GRCm39)	C602S	probably damaging	Het
Kras	T	C	6: 145,170,848 (GRCm39)	K176E	probably benign	Het
Krtap5-4	G	A	7: 141,857,585 (GRCm39)	C85Y	unknown	Het
Map3k13	A	G	16: 21,741,069 (GRCm39)	T799A	probably benign	Het
Mfhas1	T	C	8: 36,056,697 (GRCm39)	Y391H	probably damaging	Het
Morf4l1	G	A	9: 89,975,859 (GRCm39)	A311V	possibly damaging	Het
Ms4a8a	T	A	19: 11,056,848 (GRCm39)	Q78L	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Nav3	T	C	10: 109,689,359 (GRCm39)	N306S	probably benign	Het
Ncapd3	T	C	9: 26,956,519 (GRCm39)		probably null	Het
Nrg2	T	A	18: 36,330,140 (GRCm39)	Y25F	unknown	Het
Nup153	C	T	13: 46,835,084 (GRCm39)	S1407N	probably benign	Het
Or2c1	T	A	16: 3,656,658 (GRCm39)		probably null	Het
Or4c99	A	G	2: 88,329,999 (GRCm39)	Y190C	probably damaging	Het
Or5b123	A	G	19: 13,596,628 (GRCm39)	Y34C	probably damaging	Het
Pcf11	A	C	7: 92,310,534 (GRCm39)	S485A	probably damaging	Het
Pde8a	A	G	7: 80,973,819 (GRCm39)	D592G	probably damaging	Het
Perm1	G	A	4: 156,302,046 (GRCm39)	G197R	probably damaging	Het
Pigo	A	T	4: 43,020,671 (GRCm39)	M757K	probably benign	Het
Pls1	G	A	9: 95,667,558 (GRCm39)	Q117*	probably null	Het
Plscr2	T	C	9: 92,169,781 (GRCm39)	V77A	probably benign	Het
Polm	T	C	11: 5,781,695 (GRCm39)	E267G	probably benign	Het
Pomgnt1	A	T	4: 116,015,106 (GRCm39)	K519M	probably damaging	Het
Ralyl	G	A	3: 14,104,850 (GRCm39)		probably null	Het
Rhbdd3	C	T	11: 5,055,832 (GRCm39)	T338I	possibly damaging	Het
Rnf31	T	C	14: 55,830,534 (GRCm39)		probably null	Het
Slc51a	A	T	16: 32,297,601 (GRCm39)	S99T	probably benign	Het
Sorbs1	A	T	19: 40,285,032 (GRCm39)	L700H	probably damaging	Het
Tdrd7	G	A	4: 46,025,684 (GRCm39)	V835I	probably benign	Het
Tmcc3	T	C	10: 94,414,397 (GRCm39)	V64A	probably benign	Het
Tmprss5	A	G	9: 49,020,391 (GRCm39)	S140G	probably benign	Het
Tspan11	G	T	6: 127,900,629 (GRCm39)	V67F	possibly damaging	Het
Usp42	T	C	5: 143,707,426 (GRCm39)	T252A	probably damaging	Het
Vmn2r97	A	T	17: 19,149,326 (GRCm39)	E238V	probably damaging	Het
Wdpcp	T	A	11: 21,661,486 (GRCm39)	W253R	probably benign	Het
Zdhhc23	A	T	16: 43,789,663 (GRCm39)	V375E	probably damaging	Het
Zmym1	A	T	4: 126,941,496 (GRCm39)	M964K	probably damaging	Het

Other mutations in Zkscan5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03080:Zkscan5	APN	5	145,155,460 (GRCm39)	missense	probably damaging	0.99
R0401:Zkscan5	UTSW	5	145,149,385 (GRCm39)	missense	probably damaging	0.99
R0458:Zkscan5	UTSW	5	145,142,281 (GRCm39)	missense	probably damaging	0.97
R1456:Zkscan5	UTSW	5	145,157,798 (GRCm39)	missense	probably benign	0.03
R1801:Zkscan5	UTSW	5	145,157,015 (GRCm39)	missense	probably damaging	1.00
R2269:Zkscan5	UTSW	5	145,142,277 (GRCm39)	missense	probably damaging	1.00
R2426:Zkscan5	UTSW	5	145,157,750 (GRCm39)	missense	probably benign
R3085:Zkscan5	UTSW	5	145,157,889 (GRCm39)	missense	probably damaging	1.00
R3153:Zkscan5	UTSW	5	145,149,437 (GRCm39)	missense	probably benign
R3725:Zkscan5	UTSW	5	145,157,723 (GRCm39)	missense	probably damaging	0.98
R4479:Zkscan5	UTSW	5	145,147,984 (GRCm39)	intron	probably benign
R4647:Zkscan5	UTSW	5	145,155,640 (GRCm39)	missense	possibly damaging	0.71
R5292:Zkscan5	UTSW	5	145,155,451 (GRCm39)	missense	probably damaging	1.00
R5872:Zkscan5	UTSW	5	145,156,898 (GRCm39)	missense	probably benign
R5873:Zkscan5	UTSW	5	145,157,204 (GRCm39)	missense	possibly damaging	0.71
R5916:Zkscan5	UTSW	5	145,142,112 (GRCm39)	missense	possibly damaging	0.90
R6692:Zkscan5	UTSW	5	145,157,894 (GRCm39)	splice site	probably null
R7092:Zkscan5	UTSW	5	145,156,899 (GRCm39)	missense	probably benign
R7114:Zkscan5	UTSW	5	145,147,988 (GRCm39)	intron	probably benign
R7403:Zkscan5	UTSW	5	145,155,403 (GRCm39)	missense	probably benign	0.31
R7719:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7741:Zkscan5	UTSW	5	145,157,847 (GRCm39)	missense	possibly damaging	0.51
R7751:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7829:Zkscan5	UTSW	5	145,155,513 (GRCm39)	nonsense	probably null
R7874:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7875:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7879:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7884:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7899:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7902:Zkscan5	UTSW	5	145,157,676 (GRCm39)	missense	probably damaging	1.00
R7974:Zkscan5	UTSW	5	145,144,502 (GRCm39)	missense	unknown
R8729:Zkscan5	UTSW	5	145,157,071 (GRCm39)	missense	probably benign	0.01
R8778:Zkscan5	UTSW	5	145,155,142 (GRCm39)	missense	probably benign	0.12
R9569:Zkscan5	UTSW	5	145,144,419 (GRCm39)	missense	probably benign	0.03
R9669:Zkscan5	UTSW	5	145,142,136 (GRCm39)	missense	probably benign	0.07
R9737:Zkscan5	UTSW	5	145,142,136 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- AACACCAAGTGCTCCATGTGG -3'
(R):5'- AGAGGCTACAGCTCCAACTG -3'

Sequencing Primer
(F):5'- CTCCATGTGGGCCAGAAGAG -3'
(R):5'- CTTACACTGGAGGGGCTTCTC -3'

Posted On

2019-12-20