Mutagenetix > Incidental Mutation

Incidental Mutation 'R1203:Gm14137'

100240

Institutional Source

Beutler Lab

Gene Symbol

Gm14137

Ensembl Gene

ENSMUSG00000055926

Gene Name

predicted gene 14137

Synonyms

MMRRC Submission

039273-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1203 (G1)

Quality Score

205

Status

Validated

Chromosome

Chromosomal Location

119004990-119008049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119005605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 55 (R55W)

Ref Sequence

ENSEMBL: ENSMUSP00000068999 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038439] [ENSMUST00000057454] [ENSMUST00000069711]

AlphaFold

Q8CE97

Predicted Effect

probably benign
Transcript: ENSMUST00000038439

SMART Domains

Protein: ENSMUSP00000041841
Gene: ENSMUSG00000034278

Domain	Start	End	E-Value	Type
DnaJ	10	68	3.66e-21	SMART
coiled coil region	112	151	N/A	INTRINSIC
low complexity region	172	181	N/A	INTRINSIC
Pfam:RRM_1	187	243	1.8e-6	PFAM
Pfam:RRM_5	194	246	1.7e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057454

SMART Domains

Protein: ENSMUSP00000060835
Gene: ENSMUSG00000046814

Domain	Start	End	E-Value	Type
Pfam:GFRP	2	84	2.8e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000069711
AA Change: R55W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141009

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.6%
20x: 89.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,588,818 (GRCm39)	R78S	probably damaging	Het
Aadacl3	T	C	4: 144,190,140 (GRCm39)	T54A	probably benign	Het
Adcy8	A	G	15: 64,618,780 (GRCm39)	I791T	probably damaging	Het
Aldh1b1	A	G	4: 45,803,359 (GRCm39)	D299G	probably damaging	Het
Aoah	A	G	13: 21,000,764 (GRCm39)	E66G	probably damaging	Het
Atl2	G	T	17: 80,160,334 (GRCm39)	H418N	probably damaging	Het
Atp6v1d	A	G	12: 78,908,214 (GRCm39)	I7T	possibly damaging	Het
Calhm3	C	T	19: 47,143,839 (GRCm39)	V155M	probably damaging	Het
Carmil1	A	T	13: 24,282,989 (GRCm39)	I105K	probably damaging	Het
Csrp3	C	A	7: 48,489,278 (GRCm39)	M1I	probably null	Het
Dnah10	T	A	5: 124,837,078 (GRCm39)		probably null	Het
Dnah11	T	C	12: 117,897,547 (GRCm39)	N3561S	possibly damaging	Het
Dzip3	A	T	16: 48,772,180 (GRCm39)	D496E	probably damaging	Het
Eif2ak1	T	C	5: 143,820,797 (GRCm39)	V246A	probably benign	Het
Fam171b	T	A	2: 83,643,313 (GRCm39)	V74E	probably benign	Het
Gm4950	T	C	18: 51,998,830 (GRCm39)	I42V	probably benign	Het
Gpr35	T	C	1: 92,910,870 (GRCm39)	V194A	probably damaging	Het
Kdm5d	C	T	Y: 941,011 (GRCm39)	S1132F	probably damaging	Het
Muc4	C	A	16: 32,754,529 (GRCm38)	H1468N	probably benign	Het
Ncln	A	G	10: 81,332,027 (GRCm39)	V24A	possibly damaging	Het
Nphp4	A	G	4: 152,573,289 (GRCm39)	K76E	probably damaging	Het
Nsf	CAATAATAATAATAATA	CAATAATAATAATAATAATA	11: 103,816,952 (GRCm39)		probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or52h2	A	T	7: 103,839,060 (GRCm39)	L118*	probably null	Het
Pabpc1l	G	T	2: 163,879,091 (GRCm39)	V313F	possibly damaging	Het
Pcbd2	G	A	13: 55,880,881 (GRCm39)		probably null	Het
Rapgef6	T	A	11: 54,582,525 (GRCm39)	V1479D	probably benign	Het
Rnf43	T	C	11: 87,618,301 (GRCm39)		probably benign	Het
Robo3	A	G	9: 37,329,978 (GRCm39)	W1113R	probably damaging	Het
Sall1	A	T	8: 89,758,562 (GRCm39)	V514E	probably damaging	Het
Sgpp1	A	G	12: 75,763,056 (GRCm39)	I375T	probably benign	Het
Strc	T	C	2: 121,202,604 (GRCm39)	N1187S	possibly damaging	Het
Tbc1d17	G	A	7: 44,492,895 (GRCm39)	R363W	probably damaging	Het
Tbcd	A	G	11: 121,366,451 (GRCm39)	Q242R	probably benign	Het
Tbcel	A	C	9: 42,362,947 (GRCm39)	V50G	probably damaging	Het
Tead3	C	T	17: 28,560,536 (GRCm39)	A23T	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tlcd5	A	G	9: 43,022,775 (GRCm39)	V193A	probably benign	Het
Tmem241	G	T	18: 12,217,035 (GRCm39)		probably benign	Het
Tmtc3	G	T	10: 100,312,606 (GRCm39)	T79K	probably damaging	Het
Utrn	A	G	10: 12,362,281 (GRCm39)	V241A	probably damaging	Het
Vps8	A	T	16: 21,330,307 (GRCm39)	I729F	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het

Other mutations in Gm14137

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02332:Gm14137	APN	2	119,005,807 (GRCm39)	missense	probably damaging	0.96
IGL02984:Gm14137	UTSW	2	119,005,961 (GRCm39)	missense	probably damaging	0.98
R0729:Gm14137	UTSW	2	119,005,834 (GRCm39)	missense	probably benign	0.00
R3964:Gm14137	UTSW	2	119,005,497 (GRCm39)	missense	probably benign	0.27
R3966:Gm14137	UTSW	2	119,005,497 (GRCm39)	missense	probably benign	0.27
R6298:Gm14137	UTSW	2	119,005,572 (GRCm39)	missense	possibly damaging	0.59
R8137:Gm14137	UTSW	2	119,005,837 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TCAGATGCCAGACCCACTAGATGAC -3'
(R):5'- AACTTCTTCCAGAAGTGAAAGCCCC -3'

Sequencing Primer
(F):5'- CACTAGATGACTCTCAGGAGC -3'
(R):5'- AAGCCCCAGGTCCACTTTG -3'

Posted On

2014-01-15