Mutagenetix > Incidental Mutation

Incidental Mutation 'R1280:Zfp831'

150996

Institutional Source

Beutler Lab

Gene Symbol

Zfp831

Ensembl Gene

ENSMUSG00000050600

Gene Name

zinc finger protein 831

Synonyms

ENSMUSG00000050600, OTTMUSG00000017459

MMRRC Submission

039346-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

174485327-174552625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 174545852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1319 (K1319R)

Ref Sequence

ENSEMBL: ENSMUSP00000060255 (fasta)

Gene Model

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

AlphaFold

A2ADM8

Predicted Effect

probably benign
Transcript: ENSMUST00000059452
AA Change: K1319R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000060255
Gene: ENSMUSG00000050600
AA Change: K1319R

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: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Atp5mc3	G	T	2: 73,739,714 (GRCm39)	T42K	possibly damaging	Het
Brd2	T	C	17: 34,333,124 (GRCm39)	M60V	possibly damaging	Het
Cabp1	T	C	5: 115,313,530 (GRCm39)	N226S	probably benign	Het
Cers6	G	A	2: 68,899,033 (GRCm39)	V224I	probably benign	Het
Entpd2	C	T	2: 25,289,496 (GRCm39)	S326F	probably damaging	Het
Fez1	GACAAACA	GACA	9: 36,781,845 (GRCm39)		probably null	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Myo18b	A	G	5: 112,871,671 (GRCm39)		probably null	Het
Mzf1	A	T	7: 12,787,010 (GRCm39)	L20Q	probably damaging	Het
Neil1	T	C	9: 57,054,185 (GRCm39)	Y45C	probably damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Rbm12	T	C	2: 155,938,749 (GRCm39)	K508E	probably damaging	Het
Socs4	A	T	14: 47,528,370 (GRCm39)	Q435L	probably benign	Het
Tdrd9	T	C	12: 112,005,842 (GRCm39)	V905A	probably damaging	Het
Tekt4	T	A	17: 25,690,861 (GRCm39)	W56R	probably damaging	Het
Ttn	A	T	2: 76,608,508 (GRCm39)	I16059N	possibly damaging	Het
Ubqln3	A	G	7: 103,791,283 (GRCm39)	V269A	possibly damaging	Het
Vps54	T	A	11: 21,227,868 (GRCm39)	I273N	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
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
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'- GGAAGCGGAGACAACTCATTTGGC -3'
(R):5'- TTTTACCACACGGGCAGTGATACAG -3'

Sequencing Primer
(F):5'- GCTGTAGGTAATCAGGGTGC -3'
(R):5'- CAGGAATAAAGACATAGAAGTCTGG -3'

Posted On

2014-01-29