Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Zfp831'

506041

Institutional Source

Beutler Lab

Gene Symbol

Zfp831

Ensembl Gene

ENSMUSG00000050600

Gene Name

zinc finger protein 831

Synonyms

ENSMUSG00000050600, OTTMUSG00000017459

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6255 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

174485327-174552625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 174488214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 963 (L963P)

Ref Sequence

ENSEMBL: ENSMUSP00000060255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059452]

AlphaFold

A2ADM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059452
AA Change: L963P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060255
Gene: ENSMUSG00000050600
AA Change: L963P

Domain	Start	End	E-Value	Type
low complexity region	120	135	N/A	INTRINSIC
ZnF_C2H2	143	165	5.06e-2	SMART
ZnF_C2H2	171	195	7.78e-3	SMART
low complexity region	201	216	N/A	INTRINSIC
low complexity region	237	248	N/A	INTRINSIC
low complexity region	345	371	N/A	INTRINSIC
low complexity region	383	392	N/A	INTRINSIC
low complexity region	447	459	N/A	INTRINSIC
low complexity region	645	657	N/A	INTRINSIC
low complexity region	717	736	N/A	INTRINSIC
low complexity region	856	870	N/A	INTRINSIC
low complexity region	1520	1529	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,602,659 (GRCm39)	V7E	possibly damaging	Het
Aars2	G	A	17: 45,825,535 (GRCm39)	G333S	probably damaging	Het
Aen	T	A	7: 78,555,592 (GRCm39)	I85N	probably damaging	Het
Ahnak	C	A	19: 8,985,389 (GRCm39)	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,568,487 (GRCm39)	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,151,284 (GRCm39)	W2R	probably damaging	Het
Caprin2	A	G	6: 148,779,390 (GRCm39)	I139T	probably benign	Het
Cdhr3	T	A	12: 33,103,474 (GRCm39)	N381I	probably damaging	Het
Cecr2	A	G	6: 120,735,011 (GRCm39)	Y721C	probably damaging	Het
Cfhr4	A	T	1: 139,680,749 (GRCm39)	C256*	probably null	Het
Cherp	G	T	8: 73,224,725 (GRCm39)	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,714 (GRCm39)		probably null	Het
Ctdp1	T	A	18: 80,502,512 (GRCm39)		probably null	Het
Cyp2c55	T	C	19: 39,007,111 (GRCm39)	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,432,117 (GRCm39)	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,717,627 (GRCm39)		probably benign	Het
Efcab8	T	C	2: 153,652,188 (GRCm39)	W466R	possibly damaging	Het
Ehd3	C	A	17: 74,112,408 (GRCm39)	N57K	probably benign	Het
Ern2	C	A	7: 121,772,495 (GRCm39)	K654N	probably damaging	Het
Fbh1	A	T	2: 11,753,257 (GRCm39)	F879L	probably benign	Het
Gde1	T	C	7: 118,291,004 (GRCm39)	D92G	probably null	Het
Heatr5b	A	G	17: 79,110,863 (GRCm39)	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,469,290 (GRCm39)	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,587,962 (GRCm39)		probably benign	Het
Itgb4	T	C	11: 115,888,963 (GRCm39)	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,435,620 (GRCm39)	I710N	probably damaging	Het
Kif1a	T	C	1: 92,947,705 (GRCm39)	K1578E	probably damaging	Het
Kif9	T	C	9: 110,346,902 (GRCm39)		probably null	Het
Kitl	T	C	10: 99,925,095 (GRCm39)	*57Q	probably null	Het
Lrat	C	A	3: 82,810,812 (GRCm39)	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,533,797 (GRCm39)	M1022K	probably benign	Het
Muc16	T	C	9: 18,566,895 (GRCm39)	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890 (GRCm39)	N171I	probably damaging	Het
Npas4	G	A	19: 5,036,403 (GRCm39)	T587I	probably damaging	Het
Oas3	A	G	5: 120,909,295 (GRCm39)	V217A	probably benign	Het
Or6c1b	A	G	10: 129,273,557 (GRCm39)	N292S	possibly damaging	Het
Osbp	C	A	19: 11,955,317 (GRCm39)	A323D	possibly damaging	Het
Panx2	G	A	15: 88,951,821 (GRCm39)	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Piezo2	T	C	18: 63,254,341 (GRCm39)	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,517,360 (GRCm39)	T476A	probably damaging	Het
Plekha4	T	C	7: 45,203,226 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,280,969 (GRCm39)	S94P	probably damaging	Het
Pramel7	T	A	2: 87,320,007 (GRCm39)	I429L	probably benign	Het
Rif1	A	G	2: 51,975,065 (GRCm39)	K325E	probably damaging	Het
Ror2	T	C	13: 53,264,578 (GRCm39)	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,896,564 (GRCm39)	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,049,924 (GRCm39)	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,691,647 (GRCm39)	D630G	probably benign	Het
Smtnl2	G	A	11: 72,292,225 (GRCm39)	A274V	probably damaging	Het
Trank1	T	C	9: 111,181,314 (GRCm39)		probably null	Het
Tspan10	T	A	11: 120,335,368 (GRCm39)	C159*	probably null	Het
Uba6	G	A	5: 86,312,624 (GRCm39)	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,601,659 (GRCm39)	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,305,983 (GRCm39)	N905S	probably benign	Het
Zfp990	T	A	4: 145,264,359 (GRCm39)	N452K	probably benign	Het

Other mutations in Zfp831

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Zfp831	APN	2	174,488,078 (GRCm39)	missense	possibly damaging	0.86
IGL00091:Zfp831	APN	2	174,487,451 (GRCm39)	missense	possibly damaging	0.73
IGL00764:Zfp831	APN	2	174,487,701 (GRCm39)	missense	possibly damaging	0.72
IGL01538:Zfp831	APN	2	174,486,399 (GRCm39)	missense	possibly damaging	0.72
IGL01700:Zfp831	APN	2	174,486,711 (GRCm39)	missense	possibly damaging	0.86
IGL01718:Zfp831	APN	2	174,485,631 (GRCm39)	missense	possibly damaging	0.86
IGL02221:Zfp831	APN	2	174,485,519 (GRCm39)	missense	probably benign	0.33
IGL02250:Zfp831	APN	2	174,489,994 (GRCm39)	missense	possibly damaging	0.53
IGL03209:Zfp831	APN	2	174,487,059 (GRCm39)	missense	probably benign	0.40
D4043:Zfp831	UTSW	2	174,487,059 (GRCm39)	missense	probably benign	0.40
FR4304:Zfp831	UTSW	2	174,487,274 (GRCm39)	small insertion	probably benign
FR4340:Zfp831	UTSW	2	174,487,273 (GRCm39)	small insertion	probably benign
FR4449:Zfp831	UTSW	2	174,487,275 (GRCm39)	small insertion	probably benign
FR4449:Zfp831	UTSW	2	174,487,264 (GRCm39)	small insertion	probably benign
FR4589:Zfp831	UTSW	2	174,487,261 (GRCm39)	small insertion	probably benign
FR4737:Zfp831	UTSW	2	174,487,276 (GRCm39)	small insertion	probably benign
FR4737:Zfp831	UTSW	2	174,487,269 (GRCm39)	small insertion	probably benign
FR4737:Zfp831	UTSW	2	174,487,264 (GRCm39)	small insertion	probably benign
IGL02802:Zfp831	UTSW	2	174,486,945 (GRCm39)	missense	possibly damaging	0.73
P0028:Zfp831	UTSW	2	174,487,139 (GRCm39)	missense	possibly damaging	0.53
PIT4531001:Zfp831	UTSW	2	174,488,516 (GRCm39)	missense	possibly damaging	0.90
R0631:Zfp831	UTSW	2	174,487,083 (GRCm39)	missense	possibly damaging	0.53
R0644:Zfp831	UTSW	2	174,487,656 (GRCm39)	missense	probably benign	0.33
R0782:Zfp831	UTSW	2	174,488,423 (GRCm39)	missense	probably benign	0.06
R1156:Zfp831	UTSW	2	174,488,710 (GRCm39)	missense	possibly damaging	0.53
R1280:Zfp831	UTSW	2	174,545,852 (GRCm39)	missense	probably benign	0.00
R1709:Zfp831	UTSW	2	174,487,683 (GRCm39)	missense	probably benign	0.33
R1883:Zfp831	UTSW	2	174,545,870 (GRCm39)	missense	possibly damaging	0.53
R1884:Zfp831	UTSW	2	174,545,870 (GRCm39)	missense	possibly damaging	0.53
R2127:Zfp831	UTSW	2	174,489,917 (GRCm39)	missense	probably benign	0.33
R2137:Zfp831	UTSW	2	174,547,539 (GRCm39)	missense	possibly damaging	0.53
R2268:Zfp831	UTSW	2	174,486,034 (GRCm39)	missense	probably benign	0.01
R2330:Zfp831	UTSW	2	174,489,882 (GRCm39)	nonsense	probably null
R3547:Zfp831	UTSW	2	174,499,476 (GRCm39)	missense	probably benign
R3821:Zfp831	UTSW	2	174,485,816 (GRCm39)	missense	possibly damaging	0.73
R4163:Zfp831	UTSW	2	174,485,822 (GRCm39)	missense	possibly damaging	0.53
R4232:Zfp831	UTSW	2	174,547,447 (GRCm39)	missense	possibly damaging	0.96
R4778:Zfp831	UTSW	2	174,488,600 (GRCm39)	missense	possibly damaging	0.53
R4820:Zfp831	UTSW	2	174,547,097 (GRCm39)	missense	possibly damaging	0.73
R4912:Zfp831	UTSW	2	174,486,417 (GRCm39)	missense	probably damaging	1.00
R5119:Zfp831	UTSW	2	174,547,103 (GRCm39)	missense	probably benign	0.18
R5152:Zfp831	UTSW	2	174,486,357 (GRCm39)	missense	probably benign	0.33
R5723:Zfp831	UTSW	2	174,487,200 (GRCm39)	missense	probably benign	0.23
R5741:Zfp831	UTSW	2	174,486,945 (GRCm39)	missense	possibly damaging	0.73
R5888:Zfp831	UTSW	2	174,485,420 (GRCm39)	missense	probably benign	0.18
R5975:Zfp831	UTSW	2	174,485,885 (GRCm39)	missense	possibly damaging	0.93
R6092:Zfp831	UTSW	2	174,547,299 (GRCm39)	missense	probably damaging	0.98
R6158:Zfp831	UTSW	2	174,485,651 (GRCm39)	missense	possibly damaging	0.53
R6212:Zfp831	UTSW	2	174,487,661 (GRCm39)	missense	possibly damaging	0.53
R6233:Zfp831	UTSW	2	174,488,490 (GRCm39)	missense	possibly damaging	0.85
R6248:Zfp831	UTSW	2	174,486,308 (GRCm39)	missense	possibly damaging	0.53
R6460:Zfp831	UTSW	2	174,488,360 (GRCm39)	missense	possibly damaging	0.46
R6477:Zfp831	UTSW	2	174,545,960 (GRCm39)	missense	probably benign
R6864:Zfp831	UTSW	2	174,488,533 (GRCm39)	missense	possibly damaging	0.72
R7396:Zfp831	UTSW	2	174,487,002 (GRCm39)	missense	possibly damaging	0.73
R7447:Zfp831	UTSW	2	174,487,896 (GRCm39)	missense	possibly damaging	0.88
R7499:Zfp831	UTSW	2	174,485,816 (GRCm39)	missense	possibly damaging	0.73
R7662:Zfp831	UTSW	2	174,487,934 (GRCm39)	missense	possibly damaging	0.85
R7857:Zfp831	UTSW	2	174,547,035 (GRCm39)	missense	probably benign	0.33
R7889:Zfp831	UTSW	2	174,487,097 (GRCm39)	missense	possibly damaging	0.53
R7896:Zfp831	UTSW	2	174,488,921 (GRCm39)	missense	possibly damaging	0.53
R8074:Zfp831	UTSW	2	174,486,528 (GRCm39)	missense	possibly damaging	0.72
R8089:Zfp831	UTSW	2	174,486,717 (GRCm39)	missense	possibly damaging	0.96
R8438:Zfp831	UTSW	2	174,486,796 (GRCm39)	missense	possibly damaging	0.53
R8716:Zfp831	UTSW	2	174,547,049 (GRCm39)	missense	possibly damaging	0.53
R8757:Zfp831	UTSW	2	174,487,874 (GRCm39)	missense	probably benign
R8759:Zfp831	UTSW	2	174,487,874 (GRCm39)	missense	probably benign
R8899:Zfp831	UTSW	2	174,485,978 (GRCm39)	missense	probably damaging	0.97
R8976:Zfp831	UTSW	2	174,487,079 (GRCm39)	missense	possibly damaging	0.76
R9146:Zfp831	UTSW	2	174,487,461 (GRCm39)	missense	possibly damaging	0.72
R9257:Zfp831	UTSW	2	174,488,156 (GRCm39)	missense	possibly damaging	0.53
R9324:Zfp831	UTSW	2	174,547,113 (GRCm39)	missense	probably benign	0.33
R9467:Zfp831	UTSW	2	174,486,789 (GRCm39)	missense	probably benign	0.33
R9729:Zfp831	UTSW	2	174,487,938 (GRCm39)	missense	possibly damaging	0.96
X0021:Zfp831	UTSW	2	174,547,662 (GRCm39)	missense	possibly damaging	0.85
Z1177:Zfp831	UTSW	2	174,485,981 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGTCCCTAATGCTCGGTCAG -3'
(R):5'- TACTCACTACATCCTGGGCCAC -3'

Sequencing Primer
(F):5'- CTAATGCTCGGTCAGGTGGC -3'
(R):5'- ACCCGAATGTCACAGGTGTG -3'

Posted On

2018-02-28