Mutagenetix > Incidental Mutation

Incidental Mutation 'R6436:Gm10770'

518768

Institutional Source

Beutler Lab

Gene Symbol

Gm10770

Ensembl Gene

ENSMUSG00000074837

Gene Name

predicted gene 10770

Synonyms

MMRRC Submission

044574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R6436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

150020802-150021496 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 150020830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 229 (T229I)

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: T229I

PolyPhen 2 Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000097015
Gene: ENSMUSG00000074837
AA Change: T229I

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

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.5%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arc	C	A	15: 74,544,098 (GRCm39)	V42L	possibly damaging	Het
Clip1	C	T	5: 123,779,848 (GRCm39)	E433K	probably damaging	Het
Cmya5	T	C	13: 93,225,723 (GRCm39)	T3122A	probably damaging	Het
Ctf2	G	T	7: 127,318,603 (GRCm39)	A92E	probably damaging	Het
Ctsw	G	T	19: 5,516,322 (GRCm39)	R184S	possibly damaging	Het
D130043K22Rik	A	G	13: 25,061,918 (GRCm39)	E629G	probably damaging	Het
Dmbt1	T	C	7: 130,718,370 (GRCm39)	V1523A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Fanci	T	C	7: 79,090,446 (GRCm39)	I982T	probably benign	Het
Fnbp1	T	C	2: 30,986,139 (GRCm39)	D3G	probably damaging	Het
Gm35315	G	A	5: 110,226,578 (GRCm39)	T287I	probably benign	Het
Itgb3	T	A	11: 104,524,318 (GRCm39)	D151E	probably damaging	Het
Lcn8	A	T	2: 25,544,990 (GRCm39)		probably null	Het
Ninl	A	G	2: 150,808,098 (GRCm39)	L310P	probably damaging	Het
Nop2	A	G	6: 125,114,274 (GRCm39)	D215G	probably benign	Het
Or4d10c	T	C	19: 12,065,299 (GRCm39)	T286A	probably benign	Het
Or6c3	A	G	10: 129,308,773 (GRCm39)	T71A	probably damaging	Het
Parg	T	C	14: 31,993,634 (GRCm39)	W289R	probably damaging	Het
Pdcd4	A	G	19: 53,915,362 (GRCm39)		probably null	Het
Plk2	G	T	13: 110,532,570 (GRCm39)	E95*	probably null	Het
Pold1	G	A	7: 44,188,202 (GRCm39)	R559C	probably damaging	Het
Ptprc	T	C	1: 138,011,377 (GRCm39)	D560G	possibly damaging	Het
Rasal3	T	C	17: 32,616,478 (GRCm39)	Y290C	probably damaging	Het
Rcsd1	T	A	1: 165,485,184 (GRCm39)	S90C	probably damaging	Het
Rttn	T	C	18: 89,128,853 (GRCm39)	L1935P	probably damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Homo
Tmc3	T	C	7: 83,247,695 (GRCm39)	Y230H	probably damaging	Het
Tnfrsf25	A	T	4: 152,204,084 (GRCm39)		probably null	Het
Ubl7	T	C	9: 57,827,793 (GRCm39)	L160P	probably damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfp646	T	A	7: 127,479,113 (GRCm39)	V430E	probably benign	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
R5424:Gm10770	UTSW	2	150,020,948 (GRCm39)	missense	probably benign	0.01
R5429:Gm10770	UTSW	2	150,021,343 (GRCm39)	missense	probably benign	0.00
R5976:Gm10770	UTSW	2	150,021,320 (GRCm39)	nonsense	probably null
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'- ATAATTCTACTCATGACACAGCCA -3'
(R):5'- CAGGAGAGAAACCCTATGAGTGT -3'

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

Posted On

2018-05-24