Mutagenetix > Incidental Mutation

Incidental Mutation 'R4240:Gm6871'

320162

Institutional Source

Beutler Lab

Gene Symbol

Gm6871

Ensembl Gene

ENSMUSG00000090744

Gene Name

predicted gene 6871

Synonyms

MMRRC Submission

041057-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4240 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

41193704-41210253 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41195204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 511 (T511K)

Ref Sequence

ENSEMBL: ENSMUSP00000105843 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073410] [ENSMUST00000110214] [ENSMUST00000164677]

AlphaFold

L7N248

Predicted Effect

probably benign
Transcript: ENSMUST00000073410
AA Change: T404K

PolyPhen 2 Score 0.248 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000073117
Gene: ENSMUSG00000090744
AA Change: T404K

Domain	Start	End	E-Value	Type
KRAB	4	64	1.19e-16	SMART
ZnF_C2H2	131	153	3.44e-4	SMART
ZnF_C2H2	159	181	5.99e-4	SMART
ZnF_C2H2	187	209	3.34e-2	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	243	265	1.28e-3	SMART
ZnF_C2H2	271	293	3.69e-4	SMART
ZnF_C2H2	299	321	1.36e-2	SMART
ZnF_C2H2	327	349	3.21e-4	SMART
ZnF_C2H2	355	377	2.61e-4	SMART
ZnF_C2H2	383	405	3.16e-3	SMART
ZnF_C2H2	411	433	5.14e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110214
AA Change: T511K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105843
Gene: ENSMUSG00000090744
AA Change: T511K

Domain	Start	End	E-Value	Type
KRAB	111	171	1.19e-16	SMART
ZnF_C2H2	238	260	3.44e-4	SMART
ZnF_C2H2	266	288	5.99e-4	SMART
ZnF_C2H2	294	316	3.34e-2	SMART
ZnF_C2H2	322	344	5.99e-4	SMART
ZnF_C2H2	350	372	1.28e-3	SMART
ZnF_C2H2	378	400	3.69e-4	SMART
ZnF_C2H2	406	428	1.36e-2	SMART
ZnF_C2H2	434	456	3.21e-4	SMART
ZnF_C2H2	462	484	2.61e-4	SMART
ZnF_C2H2	490	512	3.16e-3	SMART
ZnF_C2H2	518	540	5.14e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164677

SMART Domains

Protein: ENSMUSP00000131240
Gene: ENSMUSG00000090744

Domain	Start	End	E-Value	Type
internal_repeat_1	21	67	6.62e-7	PROSPERO
internal_repeat_1	105	151	6.62e-7	PROSPERO

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.7%

Validation Efficiency

93% (50/54)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	C	T	13: 119,603,478 (GRCm39)	P93S	probably benign	Het
4930488N24Rik	A	T	17: 14,326,049 (GRCm39)		noncoding transcript	Het
Areg	A	T	5: 91,291,375 (GRCm39)	N106I	probably damaging	Het
Ceacam3	G	A	7: 16,893,949 (GRCm39)	E487K	possibly damaging	Het
Cfap46	G	T	7: 139,246,203 (GRCm39)	Q387K	possibly damaging	Het
Cfap74	C	A	4: 155,547,529 (GRCm39)	H1238Q	probably benign	Het
Cnot6l	T	C	5: 96,225,221 (GRCm39)	T491A	probably benign	Het
Cog7	C	T	7: 121,524,707 (GRCm39)	V696M	possibly damaging	Het
Col22a1	C	T	15: 71,878,980 (GRCm39)	G59D	probably damaging	Het
Ddi1	A	G	9: 6,265,799 (GRCm39)	M190T	probably benign	Het
Eno1b	T	A	18: 48,180,907 (GRCm39)	S362T	probably benign	Het
Erbb2	A	G	11: 98,318,869 (GRCm39)	K549R	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Gm1979	T	C	5: 26,206,119 (GRCm39)	T154A	probably benign	Het
Hsf4	A	G	8: 106,001,513 (GRCm39)	T378A	possibly damaging	Het
Irf2bpl	C	A	12: 86,929,691 (GRCm39)	Q327H	possibly damaging	Het
Klk6	A	G	7: 43,478,597 (GRCm39)	H168R	probably benign	Het
Kmt2d	G	A	15: 98,742,452 (GRCm39)		probably benign	Het
Kplce	T	C	3: 92,775,898 (GRCm39)	I262V	possibly damaging	Het
Lad1	T	A	1: 135,755,033 (GRCm39)	V103D	possibly damaging	Het
Mcm4	A	T	16: 15,445,570 (GRCm39)	Y692*	probably null	Het
Med15	C	T	16: 17,473,358 (GRCm39)	R497H	probably damaging	Het
Mfrp	T	C	9: 44,014,163 (GRCm39)	V177A	possibly damaging	Het
Mr1	T	C	1: 155,012,413 (GRCm39)	E167G	probably damaging	Het
Myo18b	A	G	5: 112,951,053 (GRCm39)		probably null	Het
Myom2	A	G	8: 15,182,895 (GRCm39)	D1444G	probably benign	Het
Nes	C	A	3: 87,886,666 (GRCm39)	P1598T	probably damaging	Het
Nlrp4d	A	T	7: 10,115,243 (GRCm39)	H479Q	noncoding transcript	Het
Nphp4	A	G	4: 152,640,141 (GRCm39)	D1009G	probably benign	Het
Or13a25	A	G	7: 140,247,496 (GRCm39)	N99D	probably benign	Het
Pate10	T	A	9: 35,653,449 (GRCm39)	Y84*	probably null	Het
Phactr1	T	A	13: 43,248,363 (GRCm39)	N437K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prc1	G	A	7: 79,960,964 (GRCm39)		probably benign	Het
Rdh7	T	C	10: 127,721,671 (GRCm39)	I202V	probably benign	Het
Rsf1	C	CGGCGGCGGT	7: 97,229,142 (GRCm39)		probably benign	Het
Sgsm3	A	G	15: 80,895,983 (GRCm39)		probably benign	Het
Sipa1l2	T	C	8: 126,218,395 (GRCm39)	E314G	probably benign	Het
Slc8a3	T	C	12: 81,361,950 (GRCm39)	K290E	probably damaging	Het
Tbc1d17	T	C	7: 44,496,250 (GRCm39)	Y84C	probably damaging	Het
Usp46	T	G	5: 74,192,928 (GRCm39)		probably benign	Het
Vmn2r14	T	G	5: 109,364,277 (GRCm39)		probably null	Het
Vmn2r8	A	T	5: 108,945,369 (GRCm39)	V746D	probably damaging	Het
Xdh	A	G	17: 74,202,790 (GRCm39)	V1120A	possibly damaging	Het
Zbtb38	CTCTTCTTCTTCTTCTTCTTCTTC	CTCTTCTTCTTCTTCTTCTTC	9: 96,568,155 (GRCm39)		probably benign	Het
Zfp791	T	C	8: 85,836,295 (GRCm39)	H523R	probably null	Het
Zfp870	A	G	17: 33,104,710 (GRCm39)	I53T	probably benign	Het

Other mutations in Gm6871

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Gm6871	APN	7	41,195,845 (GRCm39)	missense	possibly damaging	0.67
R1005_Gm6871_627	UTSW	7	41,195,682 (GRCm39)	missense	probably damaging	1.00
R0419:Gm6871	UTSW	7	41,222,869 (GRCm39)	missense	probably benign	0.00
R1005:Gm6871	UTSW	7	41,195,682 (GRCm39)	missense	probably damaging	1.00
R1544:Gm6871	UTSW	7	41,195,514 (GRCm39)	splice site	probably null
R1553:Gm6871	UTSW	7	41,195,822 (GRCm39)	missense	probably benign	0.00
R1674:Gm6871	UTSW	7	41,223,059 (GRCm39)	missense	possibly damaging	0.46
R1710:Gm6871	UTSW	7	41,195,901 (GRCm39)	missense	probably damaging	1.00
R1743:Gm6871	UTSW	7	41,195,876 (GRCm39)	missense	probably damaging	0.98
R1777:Gm6871	UTSW	7	41,195,143 (GRCm39)	missense	probably benign	0.23
R1844:Gm6871	UTSW	7	41,222,892 (GRCm39)	missense	probably benign	0.03
R2508:Gm6871	UTSW	7	41,197,414 (GRCm39)	missense	probably benign	0.11
R2966:Gm6871	UTSW	7	41,222,864 (GRCm39)	missense	probably benign	0.07
R3155:Gm6871	UTSW	7	41,223,079 (GRCm39)	missense	probably benign	0.03
R3156:Gm6871	UTSW	7	41,223,079 (GRCm39)	missense	probably benign	0.03
R3967:Gm6871	UTSW	7	41,196,148 (GRCm39)	missense	probably damaging	0.99
R4156:Gm6871	UTSW	7	41,195,510 (GRCm39)	missense	probably damaging	0.96
R4238:Gm6871	UTSW	7	41,195,204 (GRCm39)	missense	probably damaging	1.00
R4239:Gm6871	UTSW	7	41,195,204 (GRCm39)	missense	probably damaging	1.00
R4731:Gm6871	UTSW	7	41,196,173 (GRCm39)	missense	probably benign	0.01
R4732:Gm6871	UTSW	7	41,196,173 (GRCm39)	missense	probably benign	0.01
R4733:Gm6871	UTSW	7	41,196,173 (GRCm39)	missense	probably benign	0.01
R4910:Gm6871	UTSW	7	41,223,016 (GRCm39)	missense	probably benign	0.03
R5269:Gm6871	UTSW	7	41,197,525 (GRCm39)	missense	probably damaging	0.99
R5371:Gm6871	UTSW	7	41,222,992 (GRCm39)	missense	probably benign	0.07
R6222:Gm6871	UTSW	7	41,196,006 (GRCm39)	missense	probably damaging	0.99
R6975:Gm6871	UTSW	7	41,196,202 (GRCm39)	synonymous	silent
R8006:Gm6871	UTSW	7	41,195,106 (GRCm39)	missense	probably benign	0.10
R8150:Gm6871	UTSW	7	41,197,185 (GRCm39)	missense
R9019:Gm6871	UTSW	7	41,195,262 (GRCm39)	missense	probably damaging	1.00
Z1176:Gm6871	UTSW	7	41,195,837 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CGCAAAAGCTTTACCACATTTC -3'
(R):5'- TTTGCACAACACAATAGTCTCC -3'

Sequencing Primer
(F):5'- GAAATGTGCAAAGACCTTACCATG -3'
(R):5'- TGCACAACACAATAGTCTCCAAATAC -3'

Posted On

2015-06-12