Mutagenetix > Incidental Mutation

Incidental Mutation 'R5424:Gm10770'

426741

Institutional Source

Beutler Lab

Gene Symbol

Gm10770

Ensembl Gene

ENSMUSG00000074837

Gene Name

predicted gene 10770

Synonyms

MMRRC Submission

042990-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R5424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

150020802-150021496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150020948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 190 (T190A)

Ref Sequence

ENSEMBL: ENSMUSP00000097015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099418] [ENSMUST00000109926]

AlphaFold

F7D043

Predicted Effect

probably benign
Transcript: ENSMUST00000099418
AA Change: T190A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000097015
Gene: ENSMUSG00000074837
AA Change: T190A

Domain	Start	End	E-Value	Type
ZnF_C2H2	12	34	8.09e0	SMART
ZnF_C2H2	40	62	8.4e1	SMART
ZnF_C2H2	68	90	1.12e-3	SMART
ZnF_C2H2	96	118	3.47e1	SMART
ZnF_C2H2	124	146	1.09e2	SMART
ZnF_C2H2	152	174	3.58e-2	SMART
ZnF_C2H2	180	202	6.23e-2	SMART
ZnF_C2H2	208	230	2.49e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109926

SMART Domains

Protein: ENSMUSP00000105552
Gene: ENSMUSG00000079009

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	7e-15	BLAST
ZnF_C2H2	71	93	8.6e-5	SMART
ZnF_C2H2	99	121	1.76e-1	SMART
ZnF_C2H2	127	149	3.02e0	SMART
ZnF_C2H2	183	205	6.08e-5	SMART
ZnF_C2H2	211	233	1.04e-3	SMART
ZnF_C2H2	239	261	2.57e-3	SMART
ZnF_C2H2	267	289	1.06e-4	SMART
ZnF_C2H2	295	317	2.2e-2	SMART
ZnF_C2H2	323	345	4.47e-3	SMART
ZnF_C2H2	351	373	7.37e-4	SMART
ZnF_C2H2	379	401	4.24e-4	SMART
ZnF_C2H2	407	429	1.2e-3	SMART
ZnF_C2H2	435	457	2.61e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,670,678 (GRCm39)	A300D	probably damaging	Het
Abca14	T	C	7: 119,810,777 (GRCm39)	Y119H	probably benign	Het
Actb	A	G	5: 142,891,306 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,570,045 (GRCm39)	K323*	probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Aire	A	T	10: 77,872,553 (GRCm39)	V355E	probably damaging	Het
Atp8a1	T	C	5: 67,969,443 (GRCm39)	I117M	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Clca3a2	A	G	3: 144,789,942 (GRCm39)	F465L	probably damaging	Het
Cpne8	T	A	15: 90,400,260 (GRCm39)	M345L	probably benign	Het
Ddx54	T	C	5: 120,757,926 (GRCm39)		probably null	Het
Dnah14	T	G	1: 181,590,875 (GRCm39)	M3256R	possibly damaging	Het
Epha2	T	A	4: 141,046,251 (GRCm39)	Y483*	probably null	Het
Ermard	T	A	17: 15,280,032 (GRCm39)	S509T	possibly damaging	Het
Fam186a	G	T	15: 99,843,644 (GRCm39)	H867N	unknown	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gas8	C	A	8: 124,253,251 (GRCm39)	L200I	possibly damaging	Het
Gfra2	A	T	14: 71,133,287 (GRCm39)	D39V	probably damaging	Het
Gm2617	T	C	19: 9,301,320 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,805,017 (GRCm39)		probably benign	Het
Gmppb	T	A	9: 107,929,204 (GRCm39)		probably null	Het
Ifit2	T	A	19: 34,551,458 (GRCm39)	C333S	probably benign	Het
Ighg2b	T	C	12: 113,271,550 (GRCm39)	K1R	unknown	Het
Impdh2-ps	G	T	8: 100,758,141 (GRCm39)		noncoding transcript	Het
Kdelr2	A	C	5: 143,403,899 (GRCm39)	E96A	probably benign	Het
Lama2	G	A	10: 26,860,392 (GRCm39)	R3032C	probably damaging	Het
Lipg	T	A	18: 75,087,324 (GRCm39)	I166F	probably damaging	Het
Lrrc8b	T	C	5: 105,628,569 (GRCm39)	V305A	probably damaging	Het
Marveld2	T	C	13: 100,748,695 (GRCm39)	H128R	probably benign	Het
Mgat4a	A	G	1: 37,505,636 (GRCm39)	V189A	probably benign	Het
Mroh2b	A	T	15: 4,971,094 (GRCm39)	E1033V	probably damaging	Het
Mtmr7	A	G	8: 41,059,873 (GRCm39)	V80A	probably benign	Het
Ndrg2	A	G	14: 52,146,342 (GRCm39)	S153P	probably damaging	Het
Nelfa	C	T	5: 34,079,189 (GRCm39)		probably null	Het
Nes	G	T	3: 87,886,131 (GRCm39)	E1419D	possibly damaging	Het
Nipa1	C	A	7: 55,629,223 (GRCm39)	V297L	possibly damaging	Het
Obox5	T	A	7: 15,492,807 (GRCm39)	I254K	probably benign	Het
Or56b35	T	C	7: 104,963,778 (GRCm39)	V189A	possibly damaging	Het
Or8k24	G	A	2: 86,216,184 (GRCm39)	Q193*	probably null	Het
Pcdhga7	G	A	18: 37,848,388 (GRCm39)	A132T	probably benign	Het
Pla1a	T	A	16: 38,235,137 (GRCm39)	I186F	probably damaging	Het
Plscr4	T	A	9: 92,372,075 (GRCm39)	M282K	possibly damaging	Het
Rpl22l1	T	C	3: 28,861,047 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,330,800 (GRCm39)	D1246G	probably damaging	Het
Senp7	A	G	16: 56,006,471 (GRCm39)	S932G	possibly damaging	Het
Slc51a	C	A	16: 32,297,565 (GRCm39)	A111S	probably benign	Het
Srcin1	T	A	11: 97,427,885 (GRCm39)	K236*	probably null	Het
Tbxas1	A	G	6: 39,004,839 (GRCm39)	D362G	possibly damaging	Het
Tcl1b5	T	C	12: 105,146,275 (GRCm39)	I116T	possibly damaging	Het
Tgm7	T	A	2: 120,929,522 (GRCm39)	M251L	probably damaging	Het
Tnn	T	A	1: 159,950,272 (GRCm39)	Q778L	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Zfp622	T	C	15: 25,984,855 (GRCm39)	C74R	probably damaging	Het
Zfp646	C	A	7: 127,481,875 (GRCm39)	H1351N	possibly damaging	Het

Other mutations in Gm10770

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
F5770:Gm10770	UTSW	2	150,021,404 (GRCm39)	nonsense	probably null
R1765:Gm10770	UTSW	2	150,021,258 (GRCm39)	missense	probably damaging	1.00
R1842:Gm10770	UTSW	2	150,021,076 (GRCm39)	missense	probably damaging	1.00
R3438:Gm10770	UTSW	2	150,021,469 (GRCm39)	splice site	probably null
R4564:Gm10770	UTSW	2	150,020,831 (GRCm39)	missense	probably benign	0.00
R4863:Gm10770	UTSW	2	150,020,816 (GRCm39)	nonsense	probably null
R5134:Gm10770	UTSW	2	150,021,480 (GRCm39)	splice site	probably null
R5429:Gm10770	UTSW	2	150,021,343 (GRCm39)	missense	probably benign	0.00
R5976:Gm10770	UTSW	2	150,021,320 (GRCm39)	nonsense	probably null
R6436:Gm10770	UTSW	2	150,020,830 (GRCm39)	missense	probably benign	0.07
R6679:Gm10770	UTSW	2	150,021,569 (GRCm39)	missense	probably damaging	1.00
V7580:Gm10770	UTSW	2	150,021,404 (GRCm39)	nonsense	probably null
V7581:Gm10770	UTSW	2	150,021,404 (GRCm39)	nonsense	probably null
V7583:Gm10770	UTSW	2	150,021,404 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACCATCCAGATGTCTCTCAACAG -3'
(R):5'- TGCACATCAGTATGGTCTCTTATAT -3'

Sequencing Primer
(F):5'- TGTCTCTCAACAGACGAATGG -3'
(R):5'- GGAAACCCTATGAGTGTCATCAC -3'

Posted On

2016-09-01