Mutagenetix > Incidental Mutation

Incidental Mutation 'R6849:Gm32742'

534917

Institutional Source

Beutler Lab

Gene Symbol

Gm32742

Ensembl Gene

ENSMUSG00000110266

Gene Name

predicted gene, 32742

Synonyms

MMRRC Submission

044953-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.311) question?

Stock #

R6849 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51041607-51076817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51050014 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1528 (M1528I)

Ref Sequence

ENSEMBL: ENSMUSP00000148191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000210433]

AlphaFold

A0A1B0GT42

Predicted Effect

probably benign
Transcript: ENSMUST00000210433
AA Change: M1528I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	G	T	8: 125,366,261 (GRCm39)	Q161K	probably damaging	Het
4930578I06Rik	A	T	14: 64,223,687 (GRCm39)	W30R	probably damaging	Het
4930578I06Rik	G	T	14: 64,223,688 (GRCm39)	N29K	probably benign	Het
Aldh6a1	A	G	12: 84,490,561 (GRCm39)	V18A	probably benign	Het
Apoa5	A	G	9: 46,181,298 (GRCm39)	K125E	probably benign	Het
Atosa	A	C	9: 74,916,594 (GRCm39)	N398H	probably damaging	Het
Bphl	T	A	13: 34,234,252 (GRCm39)		probably null	Het
C2cd3	T	A	7: 100,056,134 (GRCm39)	V514E	probably damaging	Het
Cacna1s	G	A	1: 136,020,432 (GRCm39)	R823Q	probably benign	Het
Cep192	A	G	18: 67,945,506 (GRCm39)	D202G	probably benign	Het
Chd5	A	T	4: 152,462,995 (GRCm39)	N1420Y	probably damaging	Het
Cnot10	A	T	9: 114,461,004 (GRCm39)	D55E	probably benign	Het
Cntn1	T	A	15: 92,203,127 (GRCm39)	I803N	probably damaging	Het
Col7a1	G	T	9: 108,804,121 (GRCm39)	V2217L	unknown	Het
Cpne9	T	G	6: 113,279,079 (GRCm39)	V491G	probably damaging	Het
Cracd	C	A	5: 77,004,857 (GRCm39)	A406E	unknown	Het
Cracd	C	T	5: 77,005,004 (GRCm39)	A455V	unknown	Het
Csnk2a1	C	A	2: 152,092,484 (GRCm39)	H18Q	probably benign	Het
D130040H23Rik	T	A	8: 69,755,303 (GRCm39)	Y253*	probably null	Het
Dnah14	A	T	1: 181,636,510 (GRCm39)	M4321L	probably benign	Het
Dnah5	A	G	15: 28,278,770 (GRCm39)	T1122A	probably benign	Het
Eif4g1	A	G	16: 20,499,495 (GRCm39)	I515V	probably benign	Het
Fbn1	T	C	2: 125,163,611 (GRCm39)	K2082E	possibly damaging	Het
Fstl1	A	G	16: 37,641,521 (GRCm39)	K99R	probably benign	Het
Gar1	T	C	3: 129,623,038 (GRCm39)	N117S	probably damaging	Het
Gm3238	A	T	10: 77,606,744 (GRCm39)		probably benign	Het
H2-T3	T	C	17: 36,500,697 (GRCm39)	I49V	probably benign	Het
Hyou1	A	G	9: 44,298,561 (GRCm39)	I581V	probably damaging	Het
Itk	T	C	11: 46,222,762 (GRCm39)	N563S	probably damaging	Het
Lingo1	A	G	9: 56,526,900 (GRCm39)	L563P	probably damaging	Het
Lipc	A	G	9: 70,726,129 (GRCm39)		probably null	Het
Map4k3	A	C	17: 80,937,842 (GRCm39)		probably null	Het
Mctp2	C	T	7: 71,861,466 (GRCm39)	C393Y	probably damaging	Het
Mei1	T	A	15: 81,964,146 (GRCm39)	L229M	possibly damaging	Het
Or13g1	T	C	7: 85,956,248 (GRCm39)	I24M	possibly damaging	Het
Or9i2	G	T	19: 13,816,203 (GRCm39)	C111*	probably null	Het
Pcnx2	A	G	8: 126,587,949 (GRCm39)	V833A	probably damaging	Het
Pde8b	T	C	13: 95,184,307 (GRCm39)	N388D	possibly damaging	Het
Pi4ka	G	A	16: 17,121,285 (GRCm39)	A1197V	possibly damaging	Het
Psd	A	G	19: 46,306,185 (GRCm39)	Y36H	probably damaging	Het
Scn8a	T	A	15: 100,853,468 (GRCm39)		probably null	Het
Shisa6	A	G	11: 66,416,327 (GRCm39)	V155A	probably benign	Het
Slc45a3	T	A	1: 131,905,702 (GRCm39)	C242S	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Tmc3	T	A	7: 83,235,565 (GRCm39)	I54K	probably damaging	Het
Tmprss11g	T	A	5: 86,644,491 (GRCm39)	I118F	probably benign	Het
Ttn	T	A	2: 76,744,687 (GRCm39)	D5454V	possibly damaging	Het
Ube2f	A	G	1: 91,181,935 (GRCm39)		probably null	Het
Ubr7	T	C	12: 102,724,342 (GRCm39)	S19P	probably damaging	Het
Vav3	T	C	3: 109,428,782 (GRCm39)	V371A	probably damaging	Het
Vmn2r28	A	G	7: 5,483,806 (GRCm39)	V798A	probably damaging	Het
Vmn2r95	T	G	17: 18,664,181 (GRCm39)	C467G	probably damaging	Het
Vmn2r95	G	T	17: 18,664,182 (GRCm39)	C467F	probably damaging	Het
Vps13b	A	G	15: 35,905,455 (GRCm39)	D3325G	probably damaging	Het
Wnk2	T	C	13: 49,220,834 (GRCm39)	T1158A	probably damaging	Het
Zfp616	T	A	11: 73,976,276 (GRCm39)	N848K	possibly damaging	Het

Other mutations in Gm32742

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6258:Gm32742	UTSW	9	51,068,862 (GRCm39)	missense	probably damaging	0.96
R6452:Gm32742	UTSW	9	51,057,490 (GRCm39)	missense	probably damaging	1.00
R6929:Gm32742	UTSW	9	51,065,579 (GRCm39)	missense	probably benign	0.01
R7089:Gm32742	UTSW	9	51,054,546 (GRCm39)	missense	probably benign	0.00
R7407:Gm32742	UTSW	9	51,067,974 (GRCm39)	missense	probably damaging	0.99
R7456:Gm32742	UTSW	9	51,071,270 (GRCm39)	missense	probably damaging	0.96
R7604:Gm32742	UTSW	9	51,068,062 (GRCm39)	missense	probably benign	0.08
R7697:Gm32742	UTSW	9	51,058,901 (GRCm39)	missense	probably benign	0.27
R7796:Gm32742	UTSW	9	51,071,123 (GRCm39)	critical splice donor site	probably null
R7881:Gm32742	UTSW	9	51,060,414 (GRCm39)	missense	possibly damaging	0.90
R8428:Gm32742	UTSW	9	51,055,675 (GRCm39)	nonsense	probably null
R8776:Gm32742	UTSW	9	51,067,230 (GRCm39)	missense	probably benign
R8776-TAIL:Gm32742	UTSW	9	51,067,230 (GRCm39)	missense	probably benign
R8790:Gm32742	UTSW	9	51,059,140 (GRCm39)	missense	probably damaging	1.00
R8858:Gm32742	UTSW	9	51,062,256 (GRCm39)	missense	probably benign	0.00
R8990:Gm32742	UTSW	9	51,058,802 (GRCm39)	missense	probably damaging	1.00
R9112:Gm32742	UTSW	9	51,060,735 (GRCm39)	missense	possibly damaging	0.83
R9127:Gm32742	UTSW	9	51,056,015 (GRCm39)	missense	probably damaging	0.99
R9130:Gm32742	UTSW	9	51,050,049 (GRCm39)	missense	probably damaging	0.97
R9199:Gm32742	UTSW	9	51,060,607 (GRCm39)	missense	possibly damaging	0.48
R9233:Gm32742	UTSW	9	51,056,387 (GRCm39)	missense	possibly damaging	0.55
R9352:Gm32742	UTSW	9	51,052,544 (GRCm39)	missense	possibly damaging	0.79
R9562:Gm32742	UTSW	9	51,068,327 (GRCm39)	missense	probably benign	0.05
R9590:Gm32742	UTSW	9	51,050,461 (GRCm39)	missense	possibly damaging	0.66
R9666:Gm32742	UTSW	9	51,061,441 (GRCm39)	missense	probably benign	0.09
Z1176:Gm32742	UTSW	9	51,070,465 (GRCm39)	nonsense	probably null
Z1177:Gm32742	UTSW	9	51,069,576 (GRCm39)	critical splice acceptor site	probably null
Z1177:Gm32742	UTSW	9	51,060,606 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AATGGGCCATGTATCAAGTCCTC -3'
(R):5'- TCACCGCAATTGTTAGGGAGAC -3'

Sequencing Primer
(F):5'- ATCAAGTCCTCTTTCTTTGTGAAGG -3'
(R):5'- ACAGCAGGTAAAGATGGTCTC -3'

Posted On

2018-09-12