Mutagenetix > Incidental Mutation

Incidental Mutation 'R8990:Gm32742'

684362

Institutional Source

Beutler Lab

Gene Symbol

Gm32742

Ensembl Gene

ENSMUSG00000110266

Gene Name

predicted gene, 32742

Synonyms

MMRRC Submission

068822-MU

Accession Numbers

Essential gene?

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

Stock #

R8990 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51041607-51076817 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51058802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1072 (P1072S)

Ref Sequence

ENSEMBL: ENSMUSP00000148191 (fasta)

Gene Model

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

AlphaFold

A0A1B0GT42

Predicted Effect

probably damaging
Transcript: ENSMUST00000210433
AA Change: P1072S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,104,494 (GRCm39)	V731M		Het
Ank2	A	G	3: 126,841,829 (GRCm39)		probably null	Het
Ano8	G	C	8: 71,929,201 (GRCm39)	P1004R	unknown	Het
Aopep	G	A	13: 63,304,428 (GRCm39)	C480Y	probably damaging	Het
Asnsd1	C	T	1: 53,385,901 (GRCm39)	G491D	probably damaging	Het
Atp6v1c2	A	G	12: 17,341,647 (GRCm39)	V248A	probably benign	Het
BC035947	C	T	1: 78,475,486 (GRCm39)	V349M	probably damaging	Het
Bcl2l14	A	G	6: 134,400,630 (GRCm39)	D17G	probably damaging	Het
Bltp1	T	C	3: 36,975,370 (GRCm39)	S681P	possibly damaging	Het
Cbs	T	C	17: 31,834,523 (GRCm39)	T489A	probably benign	Het
Ccdc66	T	C	14: 27,208,655 (GRCm39)	K533R	probably benign	Het
Cenpx	A	G	11: 120,602,591 (GRCm39)	F53S	unknown	Het
Col4a4	A	G	1: 82,473,555 (GRCm39)	S657P	unknown	Het
Csnk2a1	A	G	2: 152,096,177 (GRCm39)	Y50C	probably damaging	Het
Ddx60	C	T	8: 62,427,168 (GRCm39)	R748*	probably null	Het
Diaph1	A	T	18: 37,988,857 (GRCm39)	L959H	probably damaging	Het
Dnaaf5	T	G	5: 139,155,951 (GRCm39)	L544R	probably damaging	Het
Dnah10	A	G	5: 124,814,057 (GRCm39)	D399G		Het
Eif2b4	T	C	5: 31,347,971 (GRCm39)	E247G	probably benign	Het
Fmnl2	T	C	2: 53,016,971 (GRCm39)	I1050T	unknown	Het
Gm10272	T	A	10: 77,542,658 (GRCm39)	S67T	probably damaging	Het
Hdac11	T	A	6: 91,145,799 (GRCm39)	L151*	probably null	Het
Iars1	A	G	13: 49,841,752 (GRCm39)	D80G	possibly damaging	Het
Kazn	T	C	4: 141,868,947 (GRCm39)	D413G	probably damaging	Het
Kcnc1	T	A	7: 46,077,733 (GRCm39)	*512R	probably null	Het
Kcnf1	G	A	12: 17,225,336 (GRCm39)	T295I	probably benign	Het
Klhl9	A	G	4: 88,640,205 (GRCm39)	V12A	probably benign	Het
Klk6	T	A	7: 43,476,254 (GRCm39)	H31Q	probably benign	Het
Ldhal6b	A	T	17: 5,468,020 (GRCm39)	S305T	probably damaging	Het
Lta4h	C	A	10: 93,314,315 (GRCm39)	D462E	probably damaging	Het
Ly75	T	G	2: 60,188,903 (GRCm39)	R274S	probably benign	Het
Mideas	T	C	12: 84,218,380 (GRCm39)	T527A	probably benign	Het
Mn1	A	G	5: 111,566,381 (GRCm39)	N117S	possibly damaging	Het
Mrgprd	T	C	7: 144,875,915 (GRCm39)	V262A	probably benign	Het
Mtres1	A	G	10: 43,401,233 (GRCm39)	S239P	unknown	Het
Muc4	C	A	16: 32,574,009 (GRCm39)	H696N	probably benign	Het
Nlrp3	A	T	11: 59,439,584 (GRCm39)	Q387L	probably damaging	Het
Nme7	A	G	1: 164,155,902 (GRCm39)	D34G	probably damaging	Het
Ntrk2	T	A	13: 59,007,988 (GRCm39)	L250*	probably null	Het
Or13p8	T	C	4: 118,584,224 (GRCm39)	V260A	probably benign	Het
Palld	C	T	8: 61,968,279 (GRCm39)	E1096K	probably damaging	Het
Pcdh7	A	G	5: 57,879,364 (GRCm39)	D973G	probably benign	Het
Pced1a	A	G	2: 130,264,471 (GRCm39)	Y120H	probably damaging	Het
Pira13	T	A	7: 3,824,273 (GRCm39)	T627S	unknown	Het
Pkhd1	A	G	1: 20,417,529 (GRCm39)	S2541P	probably benign	Het
Ptcd1	A	G	5: 145,102,047 (GRCm39)	S91P	probably damaging	Het
R3hdm1	C	T	1: 128,106,833 (GRCm39)	R229C	probably damaging	Het
Sectm1a	G	T	11: 120,960,701 (GRCm39)	T38K	probably damaging	Het
Serpinb2	A	T	1: 107,450,428 (GRCm39)	I142F	probably damaging	Het
Slc25a39	A	T	11: 102,295,895 (GRCm39)	V112E	possibly damaging	Het
Snap23	G	T	2: 120,415,516 (GRCm39)		probably benign	Het
Sp8	T	A	12: 118,813,122 (GRCm39)	Y326N	possibly damaging	Het
Speer4c2	G	A	5: 15,858,598 (GRCm39)	R141C	probably benign	Het
Spock1	A	T	13: 57,843,984 (GRCm39)		probably null	Het
Trpc2	T	C	7: 101,745,195 (GRCm39)	Y804H	probably benign	Het
Trpc7	T	C	13: 56,952,485 (GRCm39)	N562S	possibly damaging	Het
Trpm6	G	A	19: 18,792,799 (GRCm39)	G741E	probably damaging	Het
Vmn1r160	T	A	7: 22,570,759 (GRCm39)	H37Q	probably damaging	Het
Vmn1r174	G	T	7: 23,453,956 (GRCm39)	M207I	possibly damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably 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
R6849:Gm32742	UTSW	9	51,050,014 (GRCm39)	missense	probably benign	0.00
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
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'- TCGCCTCTAGTCAGGGTTTG -3'
(R):5'- GGGTGTCAATGGATCAGGTC -3'

Sequencing Primer
(F):5'- CAGGGTTTGAAGTACTTCCCTAGAG -3'
(R):5'- GGTCTTCTTCCTGTGACTAGGC -3'

Posted On

2021-10-11