Mutagenetix > Incidental Mutation

Incidental Mutation 'R9019:Gm6871'

686604

Institutional Source

Beutler Lab

Gene Symbol

Gm6871

Ensembl Gene

ENSMUSG00000090744

Gene Name

predicted gene 6871

Synonyms

MMRRC Submission

068849-MU

Accession Numbers

Essential gene?

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

Stock #

R9019 (G1)

Quality Score

160.009

Status

Not validated

Chromosome

Chromosomal Location

41193704-41210253 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41195262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 492 (C492S)

Ref Sequence

ENSEMBL: ENSMUSP00000105843 (fasta)

Gene Model

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

AlphaFold

L7N248

Predicted Effect

probably damaging
Transcript: ENSMUST00000073410
AA Change: C385S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073117
Gene: ENSMUSG00000090744
AA Change: C385S

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: C492S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105843
Gene: ENSMUSG00000090744
AA Change: C492S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,011,522 (GRCm39)	T1174S		Het
Aoc2	C	T	11: 101,216,262 (GRCm39)	P115L	possibly damaging	Het
Arhgef19	C	T	4: 140,973,738 (GRCm39)	P75L	probably benign	Het
Atad3a	A	G	4: 155,838,052 (GRCm39)	V240A	possibly damaging	Het
AW551984	A	T	9: 39,508,973 (GRCm39)	L317*	probably null	Het
Bdkrb1	T	C	12: 105,570,700 (GRCm39)	S89P	probably damaging	Het
Bpifb4	T	A	2: 153,790,607 (GRCm39)	L166*	probably null	Het
Ccdc27	A	G	4: 154,124,014 (GRCm39)	V173A	unknown	Het
Ccl8	T	C	11: 82,006,877 (GRCm39)	V30A	probably benign	Het
Cdc16	C	T	8: 13,831,501 (GRCm39)	A578V	probably benign	Het
Cnksr1	T	C	4: 133,959,365 (GRCm39)	Y423C	probably damaging	Het
Cyp3a44	T	C	5: 145,727,519 (GRCm39)	D270G	probably damaging	Het
Ep300	A	G	15: 81,532,730 (GRCm39)	E1656G	unknown	Het
Eppk1	A	G	15: 75,992,472 (GRCm39)	F1470L	probably benign	Het
Fbxw16	T	A	9: 109,270,135 (GRCm39)	D202V	probably damaging	Het
Fndc3a	G	A	14: 72,811,840 (GRCm39)	T330I	probably benign	Het
Gm36864	A	T	7: 43,887,028 (GRCm39)	Q307L	probably benign	Het
Gm37240	T	C	3: 84,426,946 (GRCm39)	E38G	probably damaging	Het
Gnaq	T	C	19: 16,355,638 (GRCm39)	Y285H	probably benign	Het
Htt	T	A	5: 35,023,920 (GRCm39)	F1723I	probably damaging	Het
Il21r	G	A	7: 125,231,472 (GRCm39)	S300N	probably damaging	Het
Itm2b	G	A	14: 73,605,856 (GRCm39)		probably benign	Het
Kat6a	T	C	8: 23,425,754 (GRCm39)	S1100P	probably damaging	Het
Kcnj2	T	C	11: 110,963,415 (GRCm39)	I269T	probably damaging	Het
Kmt2c	G	A	5: 25,488,208 (GRCm39)	A4635V	probably damaging	Het
Kng2	A	T	16: 22,847,546 (GRCm39)	D38E	probably damaging	Het
Lgr5	A	C	10: 115,314,454 (GRCm39)	L161R	probably damaging	Het
Lrig2	A	T	3: 104,368,914 (GRCm39)	I923N	probably benign	Het
Mrgprh	T	C	17: 13,096,200 (GRCm39)	S147P	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nsmaf	A	T	4: 6,418,523 (GRCm39)	S427R	probably damaging	Het
Or8g53	G	T	9: 39,684,038 (GRCm39)	D19E	probably benign	Het
Pdcd11	G	T	19: 47,101,658 (GRCm39)	G948C	probably damaging	Het
Pdzd2	A	G	15: 12,375,612 (GRCm39)	Y1508H	probably damaging	Het
Prmt5	G	T	14: 54,753,564 (GRCm39)	A105E	probably benign	Het
Prr23a3	T	C	9: 98,747,213 (GRCm39)	S56P	probably damaging	Het
Slc44a2	A	G	9: 21,265,077 (GRCm39)	E705G	probably damaging	Het
Sostdc1	A	T	12: 36,364,431 (GRCm39)	N47Y	probably benign	Het
Speg	T	C	1: 75,405,882 (GRCm39)	Y3029H	probably damaging	Het
Srd5a1	G	A	13: 69,748,413 (GRCm39)	R129*	probably null	Het
Srrm4	A	G	5: 116,605,586 (GRCm39)	S224P	unknown	Het
Syne2	A	G	12: 75,999,618 (GRCm39)	E2337G	possibly damaging	Het
Tmem150c	C	A	5: 100,240,958 (GRCm39)	V32L	probably benign	Het
Topaz1	T	C	9: 122,619,192 (GRCm39)	I1263T	possibly damaging	Het
Ttc39d	C	T	17: 80,523,349 (GRCm39)	R3W	probably benign	Het
Xylt1	T	C	7: 117,250,038 (GRCm39)		probably null	Het
Zfp933	A	T	4: 147,911,021 (GRCm39)	C192S	probably damaging	Het
Zswim8	G	A	14: 20,761,119 (GRCm39)	G129D	probably damaging	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
R4240: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
Z1176:Gm6871	UTSW	7	41,195,837 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GATGCGCAAAAGCTTTACCAC -3'
(R):5'- CACTGGAGAGAAACCTTACAAATG -3'

Sequencing Primer
(F):5'- TTTCAAAGGCTTCACCACAGTG -3'
(R):5'- GTAATCAATGTGATAAAGCCTTTGC -3'

Posted On

2021-11-19