Mutagenetix > Incidental Mutation

Incidental Mutation 'R8438:Zfp831'

654083

Institutional Source

Beutler Lab

Gene Symbol

Zfp831

Ensembl Gene

ENSMUSG00000050600

Gene Name

zinc finger protein 831

Synonyms

ENSMUSG00000050600, OTTMUSG00000017459

MMRRC Submission

067778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8438 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

174485327-174552625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 174486796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 490 (R490S)

Ref Sequence

ENSEMBL: ENSMUSP00000060255 (fasta)

Gene Model

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

AlphaFold

A2ADM8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059452
AA Change: R490S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000060255
Gene: ENSMUSG00000050600
AA Change: R490S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,201,962 (GRCm39)		probably null	Het
5730480H06Rik	A	T	5: 48,534,425 (GRCm39)	H95L	probably damaging	Het
Abca8a	A	G	11: 109,966,404 (GRCm39)	Y410H	probably damaging	Het
Abcb4	G	A	5: 8,996,120 (GRCm39)		probably null	Het
Adam8	C	T	7: 139,565,249 (GRCm39)		probably null	Het
Aldh1l1	C	T	6: 90,536,428 (GRCm39)	P111L	probably damaging	Het
Baz2b	G	T	2: 59,747,828 (GRCm39)	Y1278*	probably null	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Casp9	C	A	4: 141,540,934 (GRCm39)	T434N	probably benign	Het
Cd19	C	A	7: 126,013,515 (GRCm39)	M91I	possibly damaging	Het
Celsr2	G	A	3: 108,301,139 (GRCm39)	T2718M	probably damaging	Het
Clptm1	G	T	7: 19,379,776 (GRCm39)	D153E	probably benign	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Col1a2	G	T	6: 4,515,518 (GRCm39)	G127V	unknown	Het
Crybg3	A	G	16: 59,385,655 (GRCm39)	S190P	probably benign	Het
Ddrgk1	G	A	2: 130,505,302 (GRCm39)		probably benign	Het
Dennd1a	T	C	2: 37,746,150 (GRCm39)	H402R	probably benign	Het
Dgat2	T	C	7: 98,806,207 (GRCm39)	Y330C	probably damaging	Het
Dnah7b	G	A	1: 46,227,839 (GRCm39)	C1354Y	probably damaging	Het
Ecd	T	A	14: 20,388,533 (GRCm39)	I119L	possibly damaging	Het
Entpd1	A	G	19: 40,725,224 (GRCm39)	K437E	possibly damaging	Het
Fcgbp	C	T	7: 27,789,231 (GRCm39)	A599V	probably benign	Het
Gtf3c1	G	T	7: 125,241,701 (GRCm39)	S1999*	probably null	Het
Hesx1	C	T	14: 26,723,460 (GRCm39)	R97C	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hoxb3	A	G	11: 96,236,609 (GRCm39)	N229S	probably benign	Het
Itpk1	G	A	12: 102,572,418 (GRCm39)		probably benign	Het
Itprid1	C	T	6: 55,874,878 (GRCm39)	S276L	probably damaging	Het
Masp1	T	C	16: 23,289,153 (GRCm39)	D549G	probably benign	Het
Mef2c	A	G	13: 83,804,336 (GRCm39)	E312G	probably damaging	Het
Morn5	A	G	2: 35,945,076 (GRCm39)	K100R	probably benign	Het
Mphosph9	A	T	5: 124,430,455 (GRCm39)	D610E	probably benign	Het
Obox6	G	C	7: 15,567,853 (GRCm39)	A198G	probably damaging	Het
Or2t43	A	T	11: 58,457,665 (GRCm39)	S169T	possibly damaging	Het
Or4a75	C	T	2: 89,448,054 (GRCm39)	V161M	possibly damaging	Het
Or4a80	A	T	2: 89,583,061 (GRCm39)	M37K	probably damaging	Het
Or6b13	C	A	7: 139,782,170 (GRCm39)	C171F	probably damaging	Het
Pcdhgb2	A	G	18: 37,825,232 (GRCm39)	N741S	probably benign	Het
Plekhh2	A	G	17: 84,877,379 (GRCm39)	N575D	probably benign	Het
Plxna4	C	A	6: 32,179,115 (GRCm39)	G967W	probably damaging	Het
Ppp3cb	C	T	14: 20,565,658 (GRCm39)	M373I	probably damaging	Het
Sec14l2	C	A	11: 4,059,202 (GRCm39)	E156*	probably null	Het
Srrt	A	T	5: 137,301,262 (GRCm39)	Y55N	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,743,057 (GRCm39)	T789I	probably damaging	Het
Top3b	G	T	16: 16,709,364 (GRCm39)	S684I	probably benign	Het
Trpc4	A	G	3: 54,129,674 (GRCm39)	I147V	possibly damaging	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn1r31	T	A	6: 58,449,646 (GRCm39)	D73V		Het
Wasf3	A	T	5: 146,390,237 (GRCm39)	Q127L	probably benign	Het
Xpo6	T	C	7: 125,760,054 (GRCm39)	T182A	possibly damaging	Het
Xpo7	C	A	14: 70,940,672 (GRCm39)	R139S	probably benign	Het
Zfp687	A	T	3: 94,915,433 (GRCm39)	S1058T	probably benign	Het
Zfp786	T	C	6: 47,796,934 (GRCm39)	E668G	probably 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
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
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'- TGCCATATACCTACAAGGATTCCTTC -3'
(R):5'- ATCTAGTTCCTCAGCAGCGG -3'

Sequencing Primer
(F):5'- CCACTTTGACATCCGGGC -3'
(R):5'- CAGCAGCCTGTCTTACCAG -3'

Posted On

2020-10-20