Mutagenetix > Incidental Mutations

Incidental Mutation 'R4212:Gm8765'

319265

Institutional Source

Beutler Lab

Gene Symbol

Gm8765

Ensembl Gene

ENSMUSG00000094918

Gene Name

predicted gene 8765

Synonyms

MMRRC Submission

041641-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50698312-50703435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50700352 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 82 (T82I)

Ref Sequence

ENSEMBL: ENSMUSP00000097118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099518]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099518
AA Change: T82I

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: T82I

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
Pfam:FAM75	95	418	1.1e-15	PFAM
SCOP:d1i5pa1	811	874	9e-3	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	C	T	13: 58,381,991	G269E	probably damaging	Het
A1bg	G	T	15: 60,919,736	L284M	possibly damaging	Het
Adamts15	A	G	9: 30,906,174	V536A	probably damaging	Het
AI464131	T	C	4: 41,498,307	E441G	probably benign	Het
Arsi	A	T	18: 60,916,701	I219F	probably damaging	Het
Atg7	G	A	6: 114,703,425	G447E	probably benign	Het
Bdp1	T	A	13: 100,059,585	H1223L	probably benign	Het
Cep152	A	G	2: 125,620,001	M87T	probably benign	Het
Chrm3	T	C	13: 9,877,755	D415G	probably benign	Het
Chrnb2	A	T	3: 89,761,544	C155S	probably damaging	Het
Col6a4	T	A	9: 106,075,370	Q443L	probably benign	Het
D5Ertd579e	A	T	5: 36,614,479	D857E	probably damaging	Het
Efcab6	T	C	15: 83,892,863	D1124G	probably damaging	Het
F830045P16Rik	C	T	2: 129,460,353	A440T	probably benign	Het
Gc	T	C	5: 89,435,575	K370E	probably benign	Het
Gm11559	A	G	11: 99,864,900	Q125R	unknown	Het
Gm3985	A	T	8: 32,942,456		noncoding transcript	Het
Gm648	C	T	X: 56,545,208	V78I	probably benign	Het
Gucy2e	A	G	11: 69,228,123	F681S	probably damaging	Het
Hip1r	A	G	5: 123,999,890	I760V	probably benign	Het
Islr2	C	T	9: 58,199,320	G219D	probably damaging	Het
Itgae	A	G	11: 73,119,352	H556R	probably benign	Het
Jag1	T	C	2: 137,085,070	D923G	probably benign	Het
Kmt2c	A	G	5: 25,347,359		probably null	Het
Kmt2d	A	G	15: 98,845,003		probably benign	Het
Krtap17-1	A	G	11: 99,993,914	L9P	unknown	Het
Lats2	C	T	14: 57,696,255	D802N	possibly damaging	Het
Lrfn5	A	T	12: 61,843,820	T632S	probably benign	Het
Myo9a	C	T	9: 59,906,066	R2183*	probably null	Het
Naip1	T	C	13: 100,426,875		probably null	Het
Nf1	T	A	11: 79,469,798	V1434E	probably damaging	Het
Nlrc4	T	C	17: 74,447,115	Y91C	possibly damaging	Het
Olfr1454	T	G	19: 13,063,759	M116R	probably damaging	Het
Olfr173	T	A	16: 58,797,369	H159L	possibly damaging	Het
Olfr723	A	T	14: 49,928,889	Y218*	probably null	Het
Pard3	T	A	8: 127,610,458	I1143K	probably benign	Het
Pcdha7	A	G	18: 36,974,974	T351A	probably benign	Het
Phf2	C	A	13: 48,820,613	G318V	unknown	Het
Plch1	T	A	3: 63,870,759		probably benign	Het
Polr1c	A	G	17: 46,246,120	I79T	probably damaging	Het
Ppp2r5e	A	G	12: 75,469,551	I244T	probably damaging	Het
Psmd12	T	C	11: 107,485,759	C74R	probably damaging	Het
Ralgapa1	A	G	12: 55,739,330		probably null	Het
Robo3	C	T	9: 37,421,898	G781D	probably damaging	Het
Scn8a	T	C	15: 100,957,073	V147A	possibly damaging	Het
Sema3b	C	T	9: 107,603,398	V117M	probably damaging	Het
Sfxn5	A	T	6: 85,332,306	L139*	probably null	Het
Slc2a12	A	T	10: 22,702,094	K596N	probably benign	Het
Sorcs1	G	A	19: 50,225,175	R705C	probably damaging	Het
Tlr4	T	A	4: 66,840,326	I452N	probably damaging	Het
Tshz3	A	G	7: 36,770,119	D511G	probably damaging	Het
Usp44	A	G	10: 93,846,770	K314E	possibly damaging	Het

Other mutations in Gm8765

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Gm8765	APN	13	50700378	missense	probably benign	0.18
IGL02452:Gm8765	APN	13	50703077	missense	probably damaging	0.99
IGL02610:Gm8765	APN	13	50701712	missense	possibly damaging	0.91
IGL03171:Gm8765	APN	13	50702352	missense	probably benign	0.23
IGL03369:Gm8765	APN	13	50703164	missense	possibly damaging	0.74
PIT4382001:Gm8765	UTSW	13	50700971	missense	probably damaging	0.99
R0346:Gm8765	UTSW	13	50703310	missense	probably benign	0.12
R1015:Gm8765	UTSW	13	50701628	missense	possibly damaging	0.92
R1054:Gm8765	UTSW	13	50702396	missense	probably benign	0.01
R1102:Gm8765	UTSW	13	50703082	missense	probably benign	0.00
R1519:Gm8765	UTSW	13	50700407	critical splice donor site	probably null
R1628:Gm8765	UTSW	13	50702288	missense	probably benign	0.25
R1754:Gm8765	UTSW	13	50701087	missense	probably damaging	0.98
R4672:Gm8765	UTSW	13	50703172	missense	probably benign
R4780:Gm8765	UTSW	13	50701080	missense	probably damaging	0.97
R4794:Gm8765	UTSW	13	50703239	missense	probably benign	0.07
R5171:Gm8765	UTSW	13	50700378	missense	possibly damaging	0.85
R6240:Gm8765	UTSW	13	50701417	missense	probably damaging	0.97
R6366:Gm8765	UTSW	13	50701936	missense	probably benign	0.01
R6421:Gm8765	UTSW	13	50701951	missense	probably benign	0.35
R6644:Gm8765	UTSW	13	50702035	missense	possibly damaging	0.54
R6678:Gm8765	UTSW	13	50701910	missense	probably benign	0.14
R6788:Gm8765	UTSW	13	50703095	missense	probably damaging	0.99
R7030:Gm8765	UTSW	13	50702983	missense	possibly damaging	0.52
R7513:Gm8765	UTSW	13	50702873	missense	probably benign	0.01
R7681:Gm8765	UTSW	13	50702254	missense	possibly damaging	0.70
R7753:Gm8765	UTSW	13	50701781	missense	probably damaging	1.00
R7794:Gm8765	UTSW	13	50702308	missense	probably damaging	0.98
R8021:Gm8765	UTSW	13	50701094	missense	possibly damaging	0.50
Z1177:Gm8765	UTSW	13	50702144	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATATGGAGAGATGAGGCCCC -3'
(R):5'- AAGAGGCCCATCCATCTGTG -3'

Sequencing Primer
(F):5'- AGAGATGAGGCCCCTTCATTC -3'
(R):5'- GAGGCCCATCCATCTGTGTAAATTTG -3'

Posted On

2015-06-10