Mutagenetix > Incidental Mutation

Incidental Mutation 'R2862:Gm11938'

252954

Institutional Source

Beutler Lab

Gene Symbol

Gm11938

Ensembl Gene

ENSMUSG00000057674

Gene Name

predicted gene 11938

Synonyms

MMRRC Submission

040452-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R2862 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99493472-99494134 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99493972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 41 (R41L)

Ref Sequence

ENSEMBL: ENSMUSP00000072150 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072306]

AlphaFold

Q9D3H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000072306
AA Change: R41L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072150
Gene: ENSMUSG00000057674
AA Change: R41L

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	56	5.8e-4	PFAM
Pfam:Keratin_B2	1	72	2.6e-12	PFAM
Pfam:Keratin_B2_2	53	101	1.3e-5	PFAM
Pfam:Keratin_B2_2	92	131	6.1e-4	PFAM

Meta Mutation Damage Score

0.2193

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,259,057 (GRCm39)	S2928G	probably damaging	Het
Abcd1	T	A	X: 72,781,064 (GRCm39)	L713H	probably damaging	Het
Actg1	T	C	11: 120,237,627 (GRCm39)	I52V	probably benign	Het
Ahi1	T	A	10: 20,857,307 (GRCm39)	V634E	probably damaging	Het
Ang	G	T	14: 51,339,275 (GRCm39)	D139Y	probably damaging	Het
Apoe	T	C	7: 19,431,479 (GRCm39)	Y46C	probably damaging	Het
Aqr	A	T	2: 113,967,398 (GRCm39)	V539D	probably damaging	Het
Btg3	A	G	16: 78,161,868 (GRCm39)	V114A	probably damaging	Het
Cap1	A	T	4: 122,758,518 (GRCm39)	S221T	probably benign	Het
Ccdc121	G	A	5: 31,643,255 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,935,539 (GRCm39)	E392G	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col22a1	A	G	15: 71,687,792 (GRCm39)		probably null	Het
Cyp2c38	G	A	19: 39,449,138 (GRCm39)	R72W	probably benign	Het
Dnah1	C	T	14: 31,006,719 (GRCm39)	G2199S	probably benign	Het
Dnhd1	A	G	7: 105,361,766 (GRCm39)	E3608G	probably benign	Het
Ears2	A	T	7: 121,662,163 (GRCm39)	L95Q	probably damaging	Het
F5	A	T	1: 164,012,533 (GRCm39)	K482N	probably damaging	Het
Gata5	C	T	2: 179,976,129 (GRCm39)	G12S	possibly damaging	Het
Grap2	A	T	15: 80,532,165 (GRCm39)	Q260L	probably damaging	Het
Greb1	A	G	12: 16,761,746 (GRCm39)	S545P	probably benign	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Il18r1	T	C	1: 40,537,717 (GRCm39)	V494A	possibly damaging	Het
Kdf1	G	A	4: 133,255,852 (GRCm39)	E190K	probably damaging	Het
Lama2	G	A	10: 27,298,608 (GRCm39)	Q163*	probably null	Het
Lama3	G	T	18: 12,586,807 (GRCm39)	L723F	probably damaging	Het
Lamp5	A	T	2: 135,900,866 (GRCm39)	H22L	probably benign	Het
Maged1	G	A	X: 93,582,530 (GRCm39)	P366S	probably damaging	Het
Med14	A	G	X: 12,585,936 (GRCm39)	I521T	probably benign	Het
Mia2	A	G	12: 59,201,196 (GRCm39)	K841E	probably damaging	Het
Mrgbp	G	A	2: 180,225,203 (GRCm39)	R53Q	possibly damaging	Het
Mrps18b	G	A	17: 36,221,746 (GRCm39)	S101L	probably benign	Het
Nmnat2	G	A	1: 152,988,171 (GRCm39)	V267I	probably benign	Het
Noc2l	A	G	4: 156,321,907 (GRCm39)	D102G	probably benign	Het
Ntn1	T	C	11: 68,276,690 (GRCm39)	E86G	probably benign	Het
Opn4	A	G	14: 34,315,785 (GRCm39)		probably null	Het
Or2d2b	T	A	7: 106,705,675 (GRCm39)	H131L	probably benign	Het
Or4c109	A	T	2: 88,817,664 (GRCm39)	I294K	probably benign	Het
Or52n1	A	G	7: 104,383,425 (GRCm39)	F49L	probably benign	Het
Or6k6	A	G	1: 173,945,298 (GRCm39)	Y95H	probably damaging	Het
Pate3	T	A	9: 35,559,415 (GRCm39)	M1L	possibly damaging	Het
Pex2	A	G	3: 5,626,240 (GRCm39)	Y190H	probably damaging	Het
Pkhd1l1	A	C	15: 44,404,267 (GRCm39)	T2299P	probably damaging	Het
Ppp6r3	A	C	19: 3,571,782 (GRCm39)	S122R	possibly damaging	Het
Pwwp3b	G	A	X: 138,137,429 (GRCm39)	G656S	possibly damaging	Het
Rnf113a1	A	G	X: 36,455,736 (GRCm39)	E231G	probably damaging	Het
Rnf41	T	C	10: 128,274,023 (GRCm39)	L225P	possibly damaging	Het
Rreb1	G	C	13: 38,116,429 (GRCm39)	A1263P	probably benign	Het
Rxfp1	A	G	3: 79,589,778 (GRCm39)	V121A	possibly damaging	Het
Slc35e4	A	T	11: 3,862,796 (GRCm39)	V131D	probably damaging	Het
Smyd4	T	A	11: 75,280,962 (GRCm39)	M145K	probably benign	Het
Snx13	T	A	12: 35,188,116 (GRCm39)	I798N	probably benign	Het
Srgap3	A	T	6: 112,699,933 (GRCm39)	F1015Y	probably damaging	Het
Synj1	T	C	16: 90,766,217 (GRCm39)	Y567C	probably damaging	Het
Tbc1d8	G	A	1: 39,441,777 (GRCm39)	Q272*	probably null	Het
Tinf2	T	C	14: 55,918,088 (GRCm39)	D127G	probably damaging	Het
Ube2v1	G	A	2: 167,459,885 (GRCm39)	P39L	probably damaging	Het
Vegfd	A	G	X: 163,168,879 (GRCm39)	E57G	probably damaging	Het
Vmn2r72	A	T	7: 85,400,044 (GRCm39)	I335N	probably damaging	Het
Zc3h6	A	G	2: 128,857,380 (GRCm39)	H633R	probably benign	Het

Other mutations in Gm11938

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1767:Gm11938	UTSW	11	99,494,071 (GRCm39)	missense	unknown
R1854:Gm11938	UTSW	11	99,493,843 (GRCm39)	missense	possibly damaging	0.86
R2156:Gm11938	UTSW	11	99,493,933 (GRCm39)	missense	probably damaging	0.99
R2860:Gm11938	UTSW	11	99,493,972 (GRCm39)	missense	probably damaging	0.99
R2861:Gm11938	UTSW	11	99,493,972 (GRCm39)	missense	probably damaging	0.99
R4671:Gm11938	UTSW	11	99,493,832 (GRCm39)	missense	possibly damaging	0.95
R4777:Gm11938	UTSW	11	99,494,059 (GRCm39)	missense	unknown
R5622:Gm11938	UTSW	11	99,494,119 (GRCm39)	start gained	probably null
R7071:Gm11938	UTSW	11	99,493,910 (GRCm39)	missense	probably damaging	0.98
R9008:Gm11938	UTSW	11	99,493,966 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGATGACTCTTGCCCCAG -3'
(R):5'- CAGAGGAGACATCACACCTG -3'

Sequencing Primer
(F):5'- TGCATGGGGAAGTCCTGCAG -3'
(R):5'- GAGGAGACATCACACCTGAGAACTC -3'

Posted On

2014-12-04