Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Gm7168'

34431

Institutional Source

Beutler Lab

Gene Symbol

Gm7168

Ensembl Gene

ENSMUSG00000067941

Gene Name

predicted gene 7168

Synonyms

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0064 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

14168635-14170940 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14170121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 496 (T496I)

Ref Sequence

ENSEMBL: ENSMUSP00000094997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088809]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088809
AA Change: T496I

PolyPhen 2 Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000094997
Gene: ENSMUSG00000067941
AA Change: T496I

Domain	Start	End	E-Value	Type
low complexity region	6	20	N/A	INTRINSIC
S_TKc	28	276	5.25e-91	SMART
UBA	296	333	4.39e-2	SMART
low complexity region	436	451	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,035,698 (GRCm39)	L641M	probably damaging	Het
Abca9	A	C	11: 110,035,697 (GRCm39)	L641R	probably damaging	Het
Abhd18	A	G	3: 40,888,288 (GRCm39)	I377M	probably benign	Het
Arhgef17	C	A	7: 100,530,561 (GRCm39)	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,839,516 (GRCm39)	G138A	probably damaging	Het
C4b	A	G	17: 34,957,830 (GRCm39)	L617P	probably damaging	Het
Ccdc25	T	A	14: 66,091,561 (GRCm39)	I60K	possibly damaging	Het
Cdk1	T	C	10: 69,180,907 (GRCm39)	D101G	probably benign	Het
Cdon	A	G	9: 35,400,523 (GRCm39)	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,183 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Crlf3	A	G	11: 79,948,728 (GRCm39)	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,060,699 (GRCm39)	N78K	probably damaging	Het
Cul1	A	G	6: 47,479,349 (GRCm39)		probably benign	Het
D430041D05Rik	T	G	2: 104,079,502 (GRCm39)	T1194P	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,116,660 (GRCm39)	Y16*	probably null	Het
Fgd3	T	G	13: 49,449,901 (GRCm39)	D116A	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Klhl5	T	A	5: 65,298,631 (GRCm39)	S137T	probably benign	Het
Knl1	T	A	2: 118,906,724 (GRCm39)	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,662,585 (GRCm39)	N463K	probably damaging	Het
Lpl	A	G	8: 69,345,356 (GRCm39)	H120R	probably damaging	Het
Man1a2	A	T	3: 100,499,199 (GRCm39)	S412T	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Myo18a	G	T	11: 77,738,170 (GRCm39)	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,781,951 (GRCm39)	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,091,558 (GRCm39)		probably benign	Het
Nutf2	A	G	8: 106,605,441 (GRCm39)	D92G	probably damaging	Het
Obscn	A	C	11: 58,918,292 (GRCm39)	V6260G	probably damaging	Het
Or10a2	T	C	7: 106,673,487 (GRCm39)	F151L	probably benign	Het
Or2ak7	G	A	11: 58,575,301 (GRCm39)	V201M	probably benign	Het
Plce1	T	C	19: 38,769,228 (GRCm39)		probably null	Het
Pmpca	C	A	2: 26,285,519 (GRCm39)	D498E	probably benign	Het
Pnpla7	G	T	2: 24,887,239 (GRCm39)	E28*	probably null	Het
Polg	C	A	7: 79,111,632 (GRCm39)	W206C	probably damaging	Het
Ptprt	C	T	2: 161,769,711 (GRCm39)		probably benign	Het
Slc7a14	T	C	3: 31,281,209 (GRCm39)	D367G	probably damaging	Het
Spata31	T	C	13: 65,069,912 (GRCm39)	Y687H	probably damaging	Het
Sybu	T	A	15: 44,536,389 (GRCm39)	T646S	probably benign	Het
Thbs1	A	T	2: 117,954,395 (GRCm39)		probably null	Het
Tie1	A	G	4: 118,346,898 (GRCm39)	V2A	possibly damaging	Het
Tma16	A	T	8: 66,929,457 (GRCm39)	I179K	possibly damaging	Het
Tns3	G	A	11: 8,385,856 (GRCm39)	Q1381*	probably null	Het
Trank1	A	G	9: 111,172,263 (GRCm39)	D84G	probably damaging	Het
Ttc3	A	T	16: 94,223,106 (GRCm39)	H197L	possibly damaging	Het
Urb1	A	G	16: 90,576,028 (GRCm39)	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,933,003 (GRCm39)	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,012,209 (GRCm39)	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,791,053 (GRCm39)	I82L	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	Het
Zfp608	A	T	18: 55,031,888 (GRCm39)	I684N	probably benign	Het

Other mutations in Gm7168

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01298:Gm7168	APN	17	14,170,120 (GRCm39)	missense	probably benign	0.00
IGL01392:Gm7168	APN	17	14,169,169 (GRCm39)	missense	probably benign
IGL01577:Gm7168	APN	17	14,169,649 (GRCm39)	missense	probably damaging	0.99
IGL01691:Gm7168	APN	17	14,169,140 (GRCm39)	missense	probably damaging	0.96
R0611:Gm7168	UTSW	17	14,169,797 (GRCm39)	missense	probably benign
R0737:Gm7168	UTSW	17	14,169,245 (GRCm39)	missense	probably damaging	1.00
R1789:Gm7168	UTSW	17	14,169,846 (GRCm39)	missense	probably benign	0.03
R2864:Gm7168	UTSW	17	14,170,117 (GRCm39)	missense	probably benign	0.42
R2865:Gm7168	UTSW	17	14,170,117 (GRCm39)	missense	probably benign	0.42
R4179:Gm7168	UTSW	17	14,169,265 (GRCm39)	missense	probably benign	0.00
R4652:Gm7168	UTSW	17	14,170,069 (GRCm39)	missense	possibly damaging	0.88
R5174:Gm7168	UTSW	17	14,168,717 (GRCm39)	missense	probably damaging	1.00
R5722:Gm7168	UTSW	17	14,169,824 (GRCm39)	missense	probably benign
R6180:Gm7168	UTSW	17	14,168,858 (GRCm39)	missense	probably damaging	0.98
R7195:Gm7168	UTSW	17	14,169,622 (GRCm39)	missense	probably benign	0.01
R7366:Gm7168	UTSW	17	14,170,147 (GRCm39)	missense	probably damaging	1.00
R7490:Gm7168	UTSW	17	14,169,275 (GRCm39)	missense	probably benign	0.01
R7748:Gm7168	UTSW	17	14,168,914 (GRCm39)	missense	probably benign	0.03
R8113:Gm7168	UTSW	17	14,169,238 (GRCm39)	nonsense	probably null
R8201:Gm7168	UTSW	17	14,170,042 (GRCm39)	missense	probably benign
R9197:Gm7168	UTSW	17	14,169,489 (GRCm39)	missense	probably benign	0.13
R9260:Gm7168	UTSW	17	14,169,488 (GRCm39)	missense	probably benign	0.01
R9520:Gm7168	UTSW	17	14,169,506 (GRCm39)	missense	probably benign
X0020:Gm7168	UTSW	17	14,169,998 (GRCm39)	missense	probably benign	0.04
Z1177:Gm7168	UTSW	17	14,170,019 (GRCm39)	missense	probably benign	0.22
Z1177:Gm7168	UTSW	17	14,169,932 (GRCm39)	missense	probably damaging	1.00
Z1177:Gm7168	UTSW	17	14,169,344 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCACATACGTGCCATGAGTGTCC -3'
(R):5'- ACCCTGCTGGGAAGAGGAGAAATTC -3'

Sequencing Primer
(F):5'- GCTTTCAACAAGCAGCATAAGTG -3'
(R):5'- GCTTAGGGTTGAGGAAGAATTG -3'

Posted On

2013-05-09