Mutagenetix > Incidental Mutation

Incidental Mutation 'R8137:Gm14137'

632288

Institutional Source

Beutler Lab

Gene Symbol

Gm14137

Ensembl Gene

ENSMUSG00000055926

Gene Name

predicted gene 14137

Synonyms

MMRRC Submission

067565-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119004990-119008049 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119005837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 132 (E132V)

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 benign
Transcript: ENSMUST00000069711
AA Change: E132V

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 96.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	T	G	11: 89,344,003 (GRCm39)	Q326H	probably benign	Het
Carf	G	A	1: 60,187,124 (GRCm39)	V576I	probably benign	Het
Ccnl1	C	T	3: 65,865,291 (GRCm39)	D87N	possibly damaging	Het
Cgref1	T	A	5: 31,091,749 (GRCm39)	D111V	possibly damaging	Het
Cnot4	G	A	6: 35,023,222 (GRCm39)	P567S	unknown	Het
Cyp7b1	A	T	3: 18,151,765 (GRCm39)	D149E	probably benign	Het
Dcc	A	T	18: 71,511,783 (GRCm39)	D877E	probably benign	Het
Dhx8	T	A	11: 101,654,808 (GRCm39)	I1032N	probably damaging	Het
Dnah7b	A	G	1: 46,272,913 (GRCm39)	Y2347C	probably damaging	Het
Dtx3	A	G	10: 127,029,041 (GRCm39)	S63P	possibly damaging	Het
Dyrk2	C	T	10: 118,695,789 (GRCm39)	E490K	probably benign	Het
Fcgbp	A	C	7: 27,804,496 (GRCm39)	Y1868S	probably damaging	Het
Foxa2	T	C	2: 147,885,768 (GRCm39)	H355R	probably benign	Het
Fpr-rs7	A	G	17: 20,334,055 (GRCm39)	V145A	possibly damaging	Het
Gpn2	T	C	4: 133,315,873 (GRCm39)	S211P	possibly damaging	Het
Greb1l	A	T	18: 10,474,357 (GRCm39)	Q224L	possibly damaging	Het
Gspt1	A	G	16: 11,058,532 (GRCm39)	V144A	probably benign	Het
Ifi204	A	G	1: 173,589,188 (GRCm39)	I81T	possibly damaging	Het
Il27ra	T	A	8: 84,767,720 (GRCm39)		probably null	Het
Kif21a	T	C	15: 90,852,645 (GRCm39)	T862A	probably benign	Het
Klf2	T	C	8: 73,074,088 (GRCm39)		probably null	Het
Kmt2e	A	G	5: 23,706,952 (GRCm39)	Y1505C	probably damaging	Het
Mcm9	T	C	10: 53,499,076 (GRCm39)	T216A		Het
Muc16	T	C	9: 18,556,972 (GRCm39)	E3107G	unknown	Het
Ncor2	C	T	5: 125,114,957 (GRCm39)	V169I		Het
Oas3	T	C	5: 120,915,565 (GRCm39)	Q42R	probably benign	Het
Or2l5	A	G	16: 19,333,846 (GRCm39)	V180A	possibly damaging	Het
Or4p8	T	C	2: 88,727,013 (GRCm39)	*309W	probably null	Het
Pde10a	A	G	17: 9,193,647 (GRCm39)	Y693C	possibly damaging	Het
Pde11a	T	C	2: 76,041,383 (GRCm39)	E429G	possibly damaging	Het
Pramel23	A	G	4: 143,425,835 (GRCm39)	F36S	probably damaging	Het
Pygo1	A	G	9: 72,852,140 (GRCm39)	H109R	probably damaging	Het
Rbsn	A	T	6: 92,167,003 (GRCm39)	V547D	probably benign	Het
Ros1	A	G	10: 52,001,933 (GRCm39)	I1084T	possibly damaging	Het
Sis	T	C	3: 72,796,378 (GRCm39)	D1801G	probably benign	Het
Slco4c1	C	T	1: 96,748,970 (GRCm39)	G649E	probably damaging	Het
Spmip10	A	G	18: 56,727,653 (GRCm39)	D117G	probably damaging	Het
Sptbn2	A	T	19: 4,787,431 (GRCm39)	I914F	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Strc	C	T	2: 121,197,219 (GRCm39)	G1503R	probably damaging	Het
Sv2c	T	A	13: 96,225,171 (GRCm39)	Y46F	probably damaging	Het
Tctn3	A	T	19: 40,593,785 (GRCm39)	W462R	probably damaging	Het
Tjp3	T	C	10: 81,109,525 (GRCm39)	D857G	probably benign	Het
Tor1aip2	C	T	1: 155,939,414 (GRCm39)	T242I	possibly damaging	Het
Ttn	T	A	2: 76,800,273 (GRCm39)	I312F	unknown	Het
Vezt	T	C	10: 93,775,154 (GRCm39)	N94D		Het
Vmn2r105	T	C	17: 20,454,966 (GRCm39)	N57D	probably benign	Het
Wdr59	T	C	8: 112,212,011 (GRCm39)	D353G		Het
Ykt6	T	C	11: 5,909,368 (GRCm39)	V59A	probably damaging	Het
Ypel3	T	G	7: 126,377,269 (GRCm39)	V54G	possibly damaging	Het
Zfp386	T	A	12: 116,023,268 (GRCm39)	C329S	possibly damaging	Het
Zfp451	A	T	1: 33,821,156 (GRCm39)	L232H	possibly damaging	Het
Zfp648	A	G	1: 154,081,110 (GRCm39)	H423R	probably damaging	Het
Zfp729b	T	C	13: 67,740,861 (GRCm39)	Y468C	probably damaging	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
R1203:Gm14137	UTSW	2	119,005,605 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- GAAGTCATCCGAGAACTGCAAG -3'
(R):5'- AGTTCTCGCTACTCTCACCAGG -3'

Sequencing Primer
(F):5'- CTGCAAGGGAGGCCAGAC -3'
(R):5'- TACTCTCACCAGGTCAGAAGTGG -3'

Posted On

2020-06-30