Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4531001:Zfp831'

556444

Institutional Source

Beutler Lab

Gene Symbol

Zfp831

Ensembl Gene

ENSMUSG00000050600

Gene Name

zinc finger protein 831

Synonyms

ENSMUSG00000050600, OTTMUSG00000017459

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4531001 (G1)

Quality Score

194.009

Status

Not validated

Chromosome

Chromosomal Location

174485327-174552625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 174488516 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 1064 (Y1064N)

Ref Sequence

ENSEMBL: ENSMUSP00000060255 (fasta)

Gene Model

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

AlphaFold

A2ADM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059452
AA Change: Y1064N

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000060255
Gene: ENSMUSG00000050600
AA Change: Y1064N

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: 93.0%
3x: 90.6%
10x: 84.3%
20x: 70.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	T	G	9: 59,217,600 (GRCm39)	D204E	probably damaging	Het
Aqr	C	A	2: 113,961,215 (GRCm39)	V682L	possibly damaging	Het
Bmper	A	T	9: 23,136,113 (GRCm39)	N65Y	possibly damaging	Het
Calb1	T	C	4: 15,900,925 (GRCm39)	L171P	probably damaging	Het
Card11	T	C	5: 140,892,415 (GRCm39)	M217V	probably damaging	Het
Col11a2	A	G	17: 34,265,412 (GRCm39)		probably null	Het
Dpm1	T	C	2: 168,052,472 (GRCm39)	T255A	probably benign	Het
Efhb	A	G	17: 53,752,803 (GRCm39)	Y440H	probably damaging	Het
Elp2	T	C	18: 24,737,170 (GRCm39)	V40A	probably damaging	Het
Far2	A	T	6: 148,076,629 (GRCm39)	N491Y	possibly damaging	Het
Frem1	T	A	4: 82,868,517 (GRCm39)	H1488L	probably benign	Het
Frrs1l	C	A	4: 56,990,144 (GRCm39)	R43L	unknown	Het
Galnt3	G	A	2: 65,937,432 (GRCm39)	R93C	probably benign	Het
Gm8225	A	G	17: 26,762,363 (GRCm39)	T185A	possibly damaging	Het
H2-Q1	T	C	17: 35,539,892 (GRCm39)	F54L	probably benign	Het
H2-Q1	A	T	17: 35,540,055 (GRCm39)	Q108L	probably damaging	Het
Hoxc12	T	G	15: 102,846,855 (GRCm39)	L249W	probably damaging	Het
Lrrc75b	A	T	10: 75,393,099 (GRCm39)	H83Q	probably damaging	Het
Muc4	A	T	16: 32,576,391 (GRCm39)	T1964S	unknown	Het
Nob1	T	C	8: 108,145,049 (GRCm39)	D142G	probably benign	Het
Or2y1d	T	C	11: 49,321,753 (GRCm39)	V150A	probably benign	Het
Or4p19	A	T	2: 88,242,104 (GRCm39)	H299Q	probably benign	Het
Or4p22	A	T	2: 88,317,601 (GRCm39)	Y175F	possibly damaging	Het
Or5b24	G	A	19: 12,912,641 (GRCm39)	D180N	probably damaging	Het
Or5d16	A	G	2: 87,773,571 (GRCm39)	Y134H	probably damaging	Het
Patj	A	T	4: 98,329,327 (GRCm39)	N527I	probably damaging	Het
Pik3c2g	A	G	6: 139,805,096 (GRCm39)	I543V		Het
Ppp1r2	A	T	16: 31,077,279 (GRCm39)	N150K	probably damaging	Het
Prl7d1	A	T	13: 27,894,161 (GRCm39)	L135Q	probably damaging	Het
Ralgds	G	T	2: 28,435,226 (GRCm39)	E461*	probably null	Het
Ramac	C	T	7: 81,417,327 (GRCm39)	P9L	possibly damaging	Het
Rasa3	T	A	8: 13,655,887 (GRCm39)	H116L	probably benign	Het
Sec24d	C	T	3: 123,136,827 (GRCm39)	P520L	probably damaging	Het
Sfmbt1	T	G	14: 30,518,283 (GRCm39)	S376A	probably benign	Het
Sspo	A	G	6: 48,458,173 (GRCm39)	T3290A	probably benign	Het
Stk25	G	A	1: 93,552,346 (GRCm39)	P345S	probably benign	Het
Sycp2l	A	G	13: 41,300,148 (GRCm39)	E454G	probably null	Het
Tecpr1	T	C	5: 144,150,885 (GRCm39)	K308E	probably damaging	Het
Thtpa	C	T	14: 55,332,962 (GRCm39)	P16S	probably damaging	Het
Trim65	T	A	11: 116,018,535 (GRCm39)	I247F	possibly damaging	Het
Trpc6	T	G	9: 8,610,149 (GRCm39)	Y206D	probably benign	Het
Ttn	G	A	2: 76,703,307 (GRCm39)	T9357I	unknown	Het
Ugt2b1	C	A	5: 87,074,342 (GRCm39)	A6S	probably benign	Het
Vmn1r175	A	G	7: 23,508,603 (GRCm39)	V8A	possibly damaging	Het
Vps13b	T	A	15: 35,878,971 (GRCm39)	I2990N	probably damaging	Het
Xirp2	G	A	2: 67,345,826 (GRCm39)	R2689Q	possibly damaging	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
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
R6255:Zfp831	UTSW	2	174,488,214 (GRCm39)	missense	possibly damaging	0.96
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'- AGCTGGTCCAGGTTAAGGGATG -3'
(R):5'- CCGGTTTCTGCTGGTTCAAG -3'

Sequencing Primer
(F):5'- AGATAGGACCAAGGACAACATC -3'
(R):5'- CTGCTGGTTCAAGGAAATATCC -3'

Posted On

2019-06-07