Mutagenetix > Incidental Mutation

Incidental Mutation 'R5557:Gm17067'

435456

Institutional Source

Beutler Lab

Gene Symbol

Gm17067

Ensembl Gene

ENSMUSG00000091594

Gene Name

predicted gene 17067

Synonyms

MMRRC Submission

043114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5557 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42354893-42376441 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42357945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 186 (P186S)

Ref Sequence

ENSEMBL: ENSMUSP00000128086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166837] [ENSMUST00000180131]

AlphaFold

E9Q6S4

Predicted Effect

probably damaging
Transcript: ENSMUST00000166837
AA Change: P186S

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

SMART Domains

Protein: ENSMUSP00000128086
Gene: ENSMUSG00000091594
AA Change: P186S

Domain	Start	End	E-Value	Type
KRAB	4	66	4.19e-17	SMART
ZnF_C2H2	131	153	1.28e-3	SMART
ZnF_C2H2	159	181	9.73e-4	SMART
ZnF_C2H2	187	209	1.03e-2	SMART
ZnF_C2H2	215	237	1.28e-3	SMART
ZnF_C2H2	243	265	1.38e-3	SMART
ZnF_C2H2	271	293	1.04e-3	SMART
ZnF_C2H2	299	321	8.47e-4	SMART
ZnF_C2H2	327	349	1.13e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180131

Meta Mutation Damage Score

0.1688

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	A	19: 3,767,501 (GRCm39)	F363I	possibly damaging	Het
Abcb1a	T	A	5: 8,764,949 (GRCm39)	N646K	probably benign	Het
Abi2	C	A	1: 60,478,071 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,863,651 (GRCm39)	S35P	probably benign	Het
B4galt3	A	G	1: 171,100,089 (GRCm39)		probably null	Het
Bag5	T	C	12: 111,676,524 (GRCm39)	N433S	probably benign	Het
Birc7	T	A	2: 180,574,772 (GRCm39)	V218D	probably benign	Het
Catsperg1	T	G	7: 28,895,296 (GRCm39)	N332T	possibly damaging	Het
Ccdc191	A	C	16: 43,728,976 (GRCm39)	T179P	probably damaging	Het
Col4a3	C	T	1: 82,692,968 (GRCm39)		probably benign	Het
Crlf1	A	G	8: 70,951,317 (GRCm39)	I65M	probably benign	Het
Dennd4a	T	G	9: 64,811,509 (GRCm39)	D1376E	probably benign	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dlg4	C	T	11: 69,933,106 (GRCm39)	P504L	probably damaging	Het
Dop1b	A	G	16: 93,560,819 (GRCm39)	T886A	probably damaging	Het
Dst	T	A	1: 34,321,667 (GRCm39)	V4394E	probably damaging	Het
Endov	T	C	11: 119,393,186 (GRCm39)	M112T	possibly damaging	Het
Eps8	T	C	6: 137,456,094 (GRCm39)	M796V	possibly damaging	Het
Fam107b	T	A	2: 3,771,791 (GRCm39)	Y7*	probably null	Het
Farsb	C	T	1: 78,445,888 (GRCm39)		probably null	Het
Fasn	A	G	11: 120,703,252 (GRCm39)	M1591T	probably benign	Het
Fbn2	C	T	18: 58,248,731 (GRCm39)	A384T	probably benign	Het
Fnta	T	C	8: 26,489,564 (GRCm39)	D349G	probably damaging	Het
Glis3	G	T	19: 28,241,409 (GRCm39)	H842N	probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hk3	A	T	13: 55,159,888 (GRCm39)	L362*	probably null	Het
Ing3	A	G	6: 21,968,908 (GRCm39)	H130R	possibly damaging	Het
Inpp4b	A	T	8: 82,678,888 (GRCm39)	Q306L	probably damaging	Het
Kcnq2	T	C	2: 180,776,690 (GRCm39)	K66E	probably benign	Het
Kif21b	C	A	1: 136,097,797 (GRCm39)	N1352K	probably damaging	Het
Lrig3	A	T	10: 125,808,003 (GRCm39)	N84Y	probably damaging	Het
Mill2	T	A	7: 18,589,884 (GRCm39)	Y55*	probably null	Het
Mmachc	T	C	4: 116,563,097 (GRCm39)	H86R	probably damaging	Het
Ncbp1	T	C	4: 46,165,259 (GRCm39)	V524A	probably benign	Het
Or10ag54	A	T	2: 87,099,736 (GRCm39)	T204S	possibly damaging	Het
Or1q1	T	A	2: 36,887,358 (GRCm39)	C179S	probably damaging	Het
Or4c102	G	A	2: 88,422,897 (GRCm39)	V250M	probably damaging	Het
Or5af1	G	A	11: 58,722,813 (GRCm39)	V278I	probably benign	Het
Or5b101	C	A	19: 13,005,004 (GRCm39)	A230S	probably benign	Het
Or7g19	T	C	9: 18,856,466 (GRCm39)	I174T	possibly damaging	Het
Pigu	G	T	2: 155,120,549 (GRCm39)	Y404*	probably null	Het
Plaa	A	T	4: 94,472,244 (GRCm39)		probably null	Het
Plcg2	A	T	8: 118,313,296 (GRCm39)	I487F	probably damaging	Het
Plekhh2	T	C	17: 84,867,580 (GRCm39)	I162T	probably benign	Het
Ptprz1	T	A	6: 23,001,000 (GRCm39)	V1030D	probably benign	Het
Raver2	C	A	4: 100,993,336 (GRCm39)	S505R	probably benign	Het
Samd7	A	T	3: 30,810,769 (GRCm39)	Q262L	probably benign	Het
Scn9a	T	A	2: 66,377,447 (GRCm39)	N412Y	probably damaging	Het
Sytl1	C	A	4: 132,986,667 (GRCm39)	R91M	probably damaging	Het
Tead3	A	T	17: 28,555,244 (GRCm39)		probably benign	Het
Tgm1	A	G	14: 55,943,100 (GRCm39)	M580T	probably benign	Het
Themis	A	T	10: 28,657,882 (GRCm39)	Q150L	possibly damaging	Het
Tmem213	T	C	6: 38,086,466 (GRCm39)	S41P	possibly damaging	Het
Tnks1bp1	T	C	2: 84,894,144 (GRCm39)	V695A	probably damaging	Het
Trim23	A	T	13: 104,324,017 (GRCm39)	T159S	probably damaging	Het
Trim66	T	C	7: 109,082,944 (GRCm39)	Y166C	probably benign	Het
Troap	A	T	15: 98,973,675 (GRCm39)	T111S	possibly damaging	Het
Ttn	T	C	2: 76,720,734 (GRCm39)		probably null	Het
Tub	T	G	7: 108,624,925 (GRCm39)	S180A	probably damaging	Het
Vcan	A	G	13: 89,851,231 (GRCm39)	V1243A	possibly damaging	Het
Zfp608	T	C	18: 55,120,942 (GRCm39)	D215G	possibly damaging	Het
Zfp638	T	A	6: 83,944,345 (GRCm39)	V1021E	probably damaging	Het
Zim1	T	A	7: 6,680,710 (GRCm39)	I318F	probably damaging	Het

Other mutations in Gm17067

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03174:Gm17067	APN	7	42,360,100 (GRCm39)	critical splice donor site	probably null
R0016:Gm17067	UTSW	7	42,358,046 (GRCm39)	missense	probably benign	0.05
R0445:Gm17067	UTSW	7	42,358,046 (GRCm39)	missense	probably benign	0.00
R3911:Gm17067	UTSW	7	42,360,104 (GRCm39)	missense	possibly damaging	0.51
R4380:Gm17067	UTSW	7	42,357,462 (GRCm39)	missense	probably benign	0.00
R5502:Gm17067	UTSW	7	42,357,843 (GRCm39)	missense	probably damaging	0.97
R5602:Gm17067	UTSW	7	42,357,839 (GRCm39)	missense	probably damaging	0.98
R5875:Gm17067	UTSW	7	42,357,470 (GRCm39)	missense	probably benign	0.00
R6016:Gm17067	UTSW	7	42,357,654 (GRCm39)	missense	probably benign	0.24
R6029:Gm17067	UTSW	7	42,357,554 (GRCm39)	missense	probably benign	0.06
R6360:Gm17067	UTSW	7	42,357,906 (GRCm39)	missense	probably benign
R6562:Gm17067	UTSW	7	42,358,153 (GRCm39)	missense	probably damaging	1.00
R6892:Gm17067	UTSW	7	42,360,099 (GRCm39)	critical splice donor site	probably null
R8346:Gm17067	UTSW	7	42,358,073 (GRCm39)	missense	probably damaging	1.00
R8458:Gm17067	UTSW	7	42,358,155 (GRCm39)	missense	probably damaging	0.97
R9169:Gm17067	UTSW	7	42,357,627 (GRCm39)	missense	probably benign	0.02
R9647:Gm17067	UTSW	7	42,357,569 (GRCm39)	missense	probably benign
Z1177:Gm17067	UTSW	7	42,357,722 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAGGTTTCTCTCCTGTATGCG -3'
(R):5'- ACTCTGAAGGCTTTCAACATATGG -3'

Sequencing Primer
(F):5'- TGCGTTCTTTCATGTAATCGAAG -3'
(R):5'- GAAGCACTTGCATGTCAGAGTTCTC -3'

Posted On

2016-10-24