Mutagenetix > Incidental Mutation

Incidental Mutation 'R7641:Zfp930'

590249

Institutional Source

Beutler Lab

Gene Symbol

Zfp930

Ensembl Gene

ENSMUSG00000059897

Gene Name

zinc finger protein 930

Synonyms

zinc finger protein, D10627

MMRRC Submission

045699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7641 (G1)

Quality Score

161.009

Status

Validated

Chromosome

Chromosomal Location

69661690-69683188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69681337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 344 (H344L)

Ref Sequence

ENSEMBL: ENSMUSP00000148587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110216] [ENSMUST00000212312] [ENSMUST00000212681]

AlphaFold

A0A1D5RM15

Predicted Effect

probably damaging
Transcript: ENSMUST00000110216
AA Change: H343L

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

SMART Domains

Protein: ENSMUSP00000105845
Gene: ENSMUSG00000059897
AA Change: H343L

Domain	Start	End	E-Value	Type
KRAB	3	62	1.39e-13	SMART
ZnF_C2H2	73	95	1.07e0	SMART
ZnF_C2H2	101	123	6.88e-4	SMART
ZnF_C2H2	129	151	1.98e-4	SMART
ZnF_C2H2	157	179	2.63e0	SMART
ZnF_C2H2	185	207	1.3e-4	SMART
ZnF_C2H2	213	235	1.22e-4	SMART
ZnF_C2H2	241	263	7.49e-5	SMART
ZnF_C2H2	269	291	1.13e-4	SMART
ZnF_C2H2	297	319	1.84e-4	SMART
ZnF_C2H2	325	347	2.27e-4	SMART
ZnF_C2H2	353	375	1.22e-4	SMART
ZnF_C2H2	381	403	5.29e-5	SMART
ZnF_C2H2	409	431	1.72e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000212312

Predicted Effect

probably damaging
Transcript: ENSMUST00000212681
AA Change: H344L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,370 (GRCm39)	Q641L	probably benign	Het
Aknad1	A	T	3: 108,679,291 (GRCm39)	H474L	probably benign	Het
Alkal1	A	T	1: 6,459,712 (GRCm39)	Y96F	probably damaging	Het
Cars1	A	G	7: 143,140,840 (GRCm39)		probably null	Het
Chtf18	A	T	17: 25,941,249 (GRCm39)		probably null	Het
Cog2	C	A	8: 125,264,621 (GRCm39)	N333K	probably damaging	Het
Col6a5	T	A	9: 105,758,625 (GRCm39)	R2194*	probably null	Het
Dnah14	A	T	1: 181,535,098 (GRCm39)	I2355L	probably benign	Het
Dock8	G	A	19: 25,151,697 (GRCm39)		probably null	Het
Dpy19l3	A	C	7: 35,394,734 (GRCm39)	D601E	probably damaging	Het
Elf1	G	A	14: 79,808,163 (GRCm39)	G205E	probably damaging	Het
Fsip2	A	T	2: 82,817,256 (GRCm39)	K4330*	probably null	Het
Gm6525	A	T	3: 84,082,150 (GRCm39)	T24S	probably benign	Het
Golga4	G	T	9: 118,386,643 (GRCm39)	R1255L	probably benign	Het
Gpn2	A	T	4: 133,315,970 (GRCm39)	Q243L	probably null	Het
Grb10	T	C	11: 11,883,492 (GRCm39)	K588E	possibly damaging	Het
Gys1	T	C	7: 45,104,495 (GRCm39)	S641P	probably damaging	Het
H2-M5	T	A	17: 37,298,323 (GRCm39)	M331L	probably benign	Het
Ighv6-6	T	A	12: 114,398,837 (GRCm39)	I10L	probably benign	Het
Jmy	C	T	13: 93,579,107 (GRCm39)	R675Q	probably damaging	Het
Lonp2	A	T	8: 87,392,386 (GRCm39)	Q484L	probably benign	Het
Map3k20	T	A	2: 72,228,705 (GRCm39)	L308H	probably damaging	Het
Mep1b	T	C	18: 21,228,034 (GRCm39)	F546L	possibly damaging	Het
Mier1	A	G	4: 102,996,637 (GRCm39)	E133G	possibly damaging	Het
Msh3	C	A	13: 92,349,011 (GRCm39)	V1074L	probably benign	Het
Muc6	A	T	7: 141,224,247 (GRCm39)	L1645Q	unknown	Het
Nat10	G	A	2: 103,573,435 (GRCm39)	A354V	probably damaging	Het
Or8b12i	A	G	9: 20,082,549 (GRCm39)	L106P	possibly damaging	Het
Pdyn	A	T	2: 129,531,748 (GRCm39)	V14E	possibly damaging	Het
Prdm16	T	A	4: 154,429,901 (GRCm39)	H356L	probably damaging	Het
Rasa3	A	G	8: 13,634,961 (GRCm39)	C453R	probably benign	Het
Rasgrf2	C	T	13: 92,267,914 (GRCm39)	S30N	possibly damaging	Het
Rlf	A	G	4: 121,016,393 (GRCm39)	S315P	probably damaging	Het
Rusc2	C	T	4: 43,425,335 (GRCm39)	R1147W	possibly damaging	Het
Sacs	T	A	14: 61,440,320 (GRCm39)	Y789N	probably damaging	Het
Sap130	T	C	18: 31,786,676 (GRCm39)	L289P	probably damaging	Het
Septin3	A	G	15: 82,174,983 (GRCm39)	Y308C	probably damaging	Het
Slc2a12	A	G	10: 22,569,893 (GRCm39)	D528G	probably damaging	Het
Slc2a13	A	G	15: 91,156,359 (GRCm39)	*638Q	probably null	Het
Smchd1	T	A	17: 71,697,474 (GRCm39)	E1155D	probably benign	Het
Sorcs2	G	A	5: 36,555,296 (GRCm39)	R32C	probably damaging	Het
Sp110	G	A	1: 85,506,813 (GRCm39)	R417C	probably benign	Het
Tonsl	C	T	15: 76,517,852 (GRCm39)	D650N	probably damaging	Het
Tti1	A	T	2: 157,850,949 (GRCm39)	F97I	possibly damaging	Het
Ttn	T	C	2: 76,572,554 (GRCm39)	Q26113R	possibly damaging	Het
Unc5d	A	T	8: 29,210,003 (GRCm39)	N444K	probably damaging	Het
Usp17la	A	T	7: 104,510,654 (GRCm39)	K420*	probably null	Het
Vmn2r114	T	C	17: 23,527,177 (GRCm39)	N452D	possibly damaging	Het
Vps16	T	C	2: 130,282,448 (GRCm39)	V427A	probably benign	Het
Wdr5b	T	A	16: 35,862,712 (GRCm39)	V277D	probably damaging	Het
Zan	T	A	5: 137,465,370 (GRCm39)	M462L	possibly damaging	Het
Zfp40	A	G	17: 23,397,257 (GRCm39)	V80A	possibly damaging	Het

Other mutations in Zfp930

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Zfp930	APN	8	69,680,634 (GRCm39)	missense	probably damaging	1.00
Bodyguard	UTSW	8	69,681,337 (GRCm39)	missense	probably damaging	1.00
R0389:Zfp930	UTSW	8	69,680,948 (GRCm39)	nonsense	probably null
R1275:Zfp930	UTSW	8	69,680,631 (GRCm39)	missense	possibly damaging	0.73
R1322:Zfp930	UTSW	8	69,680,820 (GRCm39)	missense	probably benign	0.02
R1802:Zfp930	UTSW	8	69,679,046 (GRCm39)	missense	possibly damaging	0.50
R1917:Zfp930	UTSW	8	69,681,357 (GRCm39)	missense	probably benign	0.02
R1918:Zfp930	UTSW	8	69,681,357 (GRCm39)	missense	probably benign	0.02
R1981:Zfp930	UTSW	8	69,680,824 (GRCm39)	missense	probably damaging	1.00
R4492:Zfp930	UTSW	8	69,680,898 (GRCm39)	nonsense	probably null
R4530:Zfp930	UTSW	8	69,681,483 (GRCm39)	nonsense	probably null
R4769:Zfp930	UTSW	8	69,679,344 (GRCm39)	missense	probably benign	0.09
R4906:Zfp930	UTSW	8	69,681,597 (GRCm39)	missense	probably benign	0.11
R5314:Zfp930	UTSW	8	69,679,373 (GRCm39)	missense	probably benign	0.27
R5708:Zfp930	UTSW	8	69,679,113 (GRCm39)	missense	probably benign	0.08
R6004:Zfp930	UTSW	8	69,680,556 (GRCm39)	missense	probably benign
R6385:Zfp930	UTSW	8	69,681,283 (GRCm39)	missense	probably damaging	1.00
R7095:Zfp930	UTSW	8	69,681,193 (GRCm39)	missense	probably benign
R7619:Zfp930	UTSW	8	69,661,810 (GRCm39)	start codon destroyed	probably null	0.95
R7674:Zfp930	UTSW	8	69,681,337 (GRCm39)	missense	probably damaging	1.00
R8300:Zfp930	UTSW	8	69,680,998 (GRCm39)	missense	probably benign	0.00
R8905:Zfp930	UTSW	8	69,681,351 (GRCm39)	missense	possibly damaging	0.78
R8960:Zfp930	UTSW	8	69,680,541 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGCCTTTTCACAACACAGTAGTC -3'
(R):5'- CGAAAAGGCTTTACCACACTGATT -3'

Sequencing Primer
(F):5'- GAGTGTGGTAAAGCCTTTTCACAAC -3'
(R):5'- CACACTGATTACATTCATAGGGC -3'

Posted On

2019-10-24