Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Gm4846'

351091

Institutional Source

Beutler Lab

Gene Symbol

Gm4846

Ensembl Gene

ENSMUSG00000086056

Gene Name

predicted gene 4846

Synonyms

MMRRC Submission

041828-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

166311182-166325157 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 166323550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 58 (S58P)

Ref Sequence

ENSEMBL: ENSMUSP00000123476 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143922]

AlphaFold

B2RWH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000143922
AA Change: S58P

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

SMART Domains

Protein: ENSMUSP00000123476
Gene: ENSMUSG00000086056
AA Change: S58P

Domain	Start	End	E-Value	Type
Pfam:FMO-like	3	534	9.2e-239	PFAM
Pfam:Pyr_redox_2	4	227	1.1e-10	PFAM
Pfam:Pyr_redox_3	7	221	1.9e-12	PFAM
Pfam:NAD_binding_8	8	92	4.2e-7	PFAM
Pfam:K_oxygenase	77	333	3.4e-9	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Acaa1a	T	A	9: 119,178,006 (GRCm39)	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,060,550 (GRCm39)	C156R	probably damaging	Het
Arhgap11a	G	A	2: 113,664,423 (GRCm39)	T620M	probably benign	Het
Brinp1	A	G	4: 68,681,198 (GRCm39)	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,394,913 (GRCm39)	I760V	probably benign	Het
Cdh26	G	A	2: 178,102,435 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,731,441 (GRCm39)	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,144,845 (GRCm39)	Y670H	probably damaging	Het
Disp2	G	A	2: 118,620,643 (GRCm39)	M458I	probably benign	Het
Dot1l	T	C	10: 80,620,918 (GRCm39)	I563T	probably damaging	Het
Egf	A	T	3: 129,484,442 (GRCm39)	S1001T	probably benign	Het
Elfn1	A	G	5: 139,957,764 (GRCm39)	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,839,139 (GRCm39)	T725I	probably benign	Het
Fam168b	A	G	1: 34,859,063 (GRCm39)	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,046,631 (GRCm39)	S443N	probably damaging	Het
Flacc1	A	T	1: 58,700,601 (GRCm39)	D301E	probably benign	Het
Flrt2	T	C	12: 95,747,003 (GRCm39)	V447A	possibly damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Lpcat2b	T	C	5: 107,581,865 (GRCm39)	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 25,123,761 (GRCm39)	P587L	probably damaging	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	T	C	11: 116,023,278 (GRCm39)	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,132 (GRCm39)	E430G	probably damaging	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,047,842 (GRCm39)	R31G	probably benign	Het
Or13f5	A	T	4: 52,825,399 (GRCm39)	M1L	probably benign	Het
Pcdh1	C	A	18: 38,330,913 (GRCm39)	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,871,553 (GRCm39)	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,667,723 (GRCm39)	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Poglut2	A	C	1: 44,149,180 (GRCm39)	F453V	probably damaging	Het
Ptprn	T	A	1: 75,228,931 (GRCm39)	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,177,700 (GRCm39)	W97R	probably damaging	Het
Rnf10	T	A	5: 115,386,762 (GRCm39)	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec24b	A	T	3: 129,834,413 (GRCm39)	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,561,768 (GRCm39)	N100S	probably benign	Het
Speer1j	T	C	5: 11,553,798 (GRCm39)	S7P	probably benign	Het
Stam2	A	T	2: 52,605,716 (GRCm39)	D167E	probably benign	Het
Stambp	G	A	6: 83,538,960 (GRCm39)	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,047,000 (GRCm39)	V556A	possibly damaging	Het
Tll2	T	C	19: 41,087,075 (GRCm39)	D592G	probably benign	Het
Tmem199	A	T	11: 78,400,508 (GRCm39)		probably benign	Het
Traip	T	A	9: 107,847,218 (GRCm39)	N352K	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Usp54	C	A	14: 20,600,406 (GRCm39)	A1444S	probably benign	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Xdh	G	A	17: 74,225,389 (GRCm39)	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,316,494 (GRCm39)	D83G	probably damaging	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het
Zfp451	A	G	1: 33,841,752 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,944 (GRCm39)	S170T	probably benign	Het
Zfp970	A	G	2: 177,167,961 (GRCm39)	I512V	probably benign	Het
Zfp990	A	G	4: 145,263,616 (GRCm39)	I205V	possibly damaging	Het

Other mutations in Gm4846

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02682:Gm4846	APN	1	166,322,195 (GRCm39)	missense	probably damaging	1.00
IGL02975:Gm4846	APN	1	166,311,449 (GRCm39)	missense	possibly damaging	0.46
R0504:Gm4846	UTSW	1	166,319,114 (GRCm39)	missense	probably benign	0.04
R0989:Gm4846	UTSW	1	166,314,689 (GRCm39)	missense	possibly damaging	0.81
R1836:Gm4846	UTSW	1	166,311,492 (GRCm39)	missense	probably benign	0.17
R1965:Gm4846	UTSW	1	166,314,533 (GRCm39)	missense	possibly damaging	0.93
R3120:Gm4846	UTSW	1	166,319,117 (GRCm39)	missense	probably benign	0.11
R4013:Gm4846	UTSW	1	166,322,249 (GRCm39)	splice site	probably null
R4641:Gm4846	UTSW	1	166,311,462 (GRCm39)	missense	probably damaging	0.99
R4825:Gm4846	UTSW	1	166,319,237 (GRCm39)	missense	probably damaging	1.00
R4952:Gm4846	UTSW	1	166,311,503 (GRCm39)	missense	probably damaging	0.97
R5135:Gm4846	UTSW	1	166,311,551 (GRCm39)	missense	probably damaging	1.00
R5230:Gm4846	UTSW	1	166,317,748 (GRCm39)	missense	probably benign	0.26
R5335:Gm4846	UTSW	1	166,325,022 (GRCm39)	nonsense	probably null
R5711:Gm4846	UTSW	1	166,311,594 (GRCm39)	missense	probably benign	0.12
R5957:Gm4846	UTSW	1	166,314,522 (GRCm39)	missense	probably benign
R6024:Gm4846	UTSW	1	166,317,696 (GRCm39)	missense	probably benign	0.00
R6460:Gm4846	UTSW	1	166,325,082 (GRCm39)	missense	probably benign	0.00
R6764:Gm4846	UTSW	1	166,319,121 (GRCm39)	missense	probably benign
R6833:Gm4846	UTSW	1	166,322,147 (GRCm39)	missense	possibly damaging	0.63
R6834:Gm4846	UTSW	1	166,322,147 (GRCm39)	missense	possibly damaging	0.63
R7161:Gm4846	UTSW	1	166,314,579 (GRCm39)	missense	probably damaging	1.00
R7275:Gm4846	UTSW	1	166,314,648 (GRCm39)	missense	probably benign	0.01
R7622:Gm4846	UTSW	1	166,323,441 (GRCm39)	missense	possibly damaging	0.64
R7890:Gm4846	UTSW	1	166,322,228 (GRCm39)	missense	probably benign
R8072:Gm4846	UTSW	1	166,322,241 (GRCm39)	missense	probably benign	0.06
R8558:Gm4846	UTSW	1	166,314,674 (GRCm39)	missense	probably damaging	1.00
R9213:Gm4846	UTSW	1	166,322,142 (GRCm39)	missense	probably damaging	1.00
R9221:Gm4846	UTSW	1	166,324,959 (GRCm39)	missense	probably benign	0.02
R9251:Gm4846	UTSW	1	166,311,307 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTGAAACTGTGCCCAGCTGG -3'
(R):5'- GGTAACAGTATAGAATCCAACAGTGAC -3'

Sequencing Primer
(F):5'- TGCCTTGACCCATGTGCAG -3'
(R):5'- TCCAACAGTGACACGCATTTTC -3'

Posted On

2015-10-08