Mutagenetix > Incidental Mutation

Incidental Mutation 'R6743:Gm14295'

532729

Institutional Source

Beutler Lab

Gene Symbol

Gm14295

Ensembl Gene

ENSMUSG00000078877

Gene Name

predicted gene 14295

Synonyms

MMRRC Submission

044860-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R6743 (G1)

Quality Score

126.008

Status

Not validated

Chromosome

Chromosomal Location

176490405-176503016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 176502420 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 637 (C637G)

Ref Sequence

ENSEMBL: ENSMUSP00000119262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118012] [ENSMUST00000132883] [ENSMUST00000179435]

AlphaFold

A2BG91

Predicted Effect

probably benign
Transcript: ENSMUST00000118012

SMART Domains

Protein: ENSMUSP00000113133
Gene: ENSMUSG00000078877

Domain	Start	End	E-Value	Type
KRAB	4	64	5.2e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000132883
AA Change: C637G

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

SMART Domains

Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: C637G

Domain	Start	End	E-Value	Type
KRAB	4	66	6.97e-14	SMART
ZnF_C2H2	78	97	1.61e2	SMART
ZnF_C2H2	103	125	4.17e-3	SMART
ZnF_C2H2	131	153	1.67e-2	SMART
ZnF_C2H2	159	181	2.27e-4	SMART
ZnF_C2H2	187	209	2.61e-4	SMART
ZnF_C2H2	215	237	5.5e-3	SMART
ZnF_C2H2	243	265	2.4e-3	SMART
ZnF_C2H2	271	293	6.32e-3	SMART
ZnF_C2H2	299	321	4.17e-3	SMART
ZnF_C2H2	327	349	3.21e-4	SMART
ZnF_C2H2	355	377	6.88e-4	SMART
ZnF_C2H2	383	405	9.22e-5	SMART
ZnF_C2H2	411	433	6.88e-4	SMART
ZnF_C2H2	439	461	9.22e-5	SMART
ZnF_C2H2	467	489	1.67e-2	SMART
ZnF_C2H2	495	517	3.16e-3	SMART
ZnF_C2H2	523	545	1.3e-4	SMART
ZnF_C2H2	551	573	1.67e-2	SMART
ZnF_C2H2	579	601	3.16e-3	SMART
ZnF_C2H2	607	629	6.78e-3	SMART
ZnF_C2H2	635	657	4.54e-4	SMART
ZnF_C2H2	663	685	4.54e-4	SMART
ZnF_C2H2	691	713	1.67e-2	SMART
ZnF_C2H2	719	741	3.16e-3	SMART
ZnF_C2H2	747	769	1.38e-3	SMART
ZnF_C2H2	775	797	4.94e-5	SMART
ZnF_C2H2	803	823	8.75e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179435

SMART Domains

Protein: ENSMUSP00000136320
Gene: ENSMUSG00000078877

Domain	Start	End	E-Value	Type
KRAB	3	63	5.2e-13	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	C	T	17: 31,327,321 (GRCm39)	R339C	possibly damaging	Het
Adamts6	G	A	13: 104,565,436 (GRCm39)	G721R	probably damaging	Het
Adnp2	A	G	18: 80,171,274 (GRCm39)	V1045A	probably benign	Het
Agbl3	T	C	6: 34,823,888 (GRCm39)	I856T	probably benign	Het
Anapc1	T	A	2: 128,526,454 (GRCm39)	K115*	probably null	Het
Arc	A	G	15: 74,543,636 (GRCm39)	S196P	probably benign	Het
Atp10a	T	C	7: 58,447,562 (GRCm39)	I768T	possibly damaging	Het
Blk	C	T	14: 63,622,375 (GRCm39)	R55H	probably benign	Het
Ccdc158	T	C	5: 92,810,005 (GRCm39)	S168G	probably benign	Het
Cda	G	T	4: 138,066,253 (GRCm39)	T128K	probably benign	Het
Celsr1	T	A	15: 85,791,799 (GRCm39)	T2601S	probably damaging	Het
Dmxl1	T	C	18: 50,013,847 (GRCm39)	V1545A	possibly damaging	Het
Dst	T	A	1: 34,309,971 (GRCm39)	N6264K	probably damaging	Het
Ednra	T	C	8: 78,401,718 (GRCm39)	S191G	probably damaging	Het
Elk3	A	T	10: 93,100,912 (GRCm39)	S280T	possibly damaging	Het
Etnk1	A	G	6: 143,126,343 (GRCm39)	I63V	possibly damaging	Het
Fscb	A	G	12: 64,518,347 (GRCm39)	S1040P	unknown	Het
Gm5114	T	C	7: 39,057,997 (GRCm39)	T541A	probably benign	Het
Man2c1	T	C	9: 57,042,849 (GRCm39)	F240L	probably benign	Het
Map2	A	T	1: 66,454,766 (GRCm39)	I1219L	probably benign	Het
Map3k13	A	G	16: 21,711,173 (GRCm39)	Y152C	probably damaging	Het
Morc1	G	A	16: 48,322,683 (GRCm39)	A327T	probably damaging	Het
Myo3a	A	T	2: 22,366,475 (GRCm39)	Y553F	probably benign	Het
Myo9b	T	A	8: 71,804,803 (GRCm39)		probably null	Het
Or14j1	A	C	17: 38,146,694 (GRCm39)	D268A	probably damaging	Het
Or5b3	C	T	19: 13,387,957 (GRCm39)	T8I	probably damaging	Het
Pam	A	G	1: 97,823,774 (GRCm39)	V219A	probably benign	Het
Panx1	A	G	9: 14,918,929 (GRCm39)	I310T	possibly damaging	Het
Pde6a	T	A	18: 61,397,057 (GRCm39)	F634L	possibly damaging	Het
Pkd1l2	C	A	8: 117,757,370 (GRCm39)	C1556F	probably damaging	Het
Prdm5	G	A	6: 65,860,635 (GRCm39)	V440I	probably damaging	Het
Rasa2	T	C	9: 96,493,493 (GRCm39)	T64A	probably damaging	Het
Sec24b	A	T	3: 129,834,881 (GRCm39)	Y106N	probably damaging	Het
Sfswap	C	T	5: 129,627,883 (GRCm39)	Q689*	probably null	Het
Slamf8	C	T	1: 172,417,965 (GRCm39)		probably null	Het
Tektl1	G	A	10: 78,588,726 (GRCm39)	T28M	probably benign	Het
Tmt1a3	A	G	15: 100,233,123 (GRCm39)	K105E	probably benign	Het
Tsr1	T	C	11: 74,799,177 (GRCm39)	V786A	probably benign	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	Het
Zmynd10	T	C	9: 107,425,079 (GRCm39)	I58T	possibly damaging	Het

Other mutations in Gm14295

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1623:Gm14295	UTSW	2	176,499,157 (GRCm39)	missense	probably damaging	1.00
R2061:Gm14295	UTSW	2	176,502,474 (GRCm39)	nonsense	probably null
R2172:Gm14295	UTSW	2	176,502,895 (GRCm39)	missense	possibly damaging	0.48
R2411:Gm14295	UTSW	2	176,499,206 (GRCm39)	missense	probably benign	0.29
R4472:Gm14295	UTSW	2	176,501,386 (GRCm39)	missense	possibly damaging	0.71
R4949:Gm14295	UTSW	2	176,501,469 (GRCm39)	missense	probably damaging	0.99
R5082:Gm14295	UTSW	2	176,499,210 (GRCm39)	nonsense	probably null
R5311:Gm14295	UTSW	2	176,502,465 (GRCm39)	missense	probably benign	0.00
R5792:Gm14295	UTSW	2	176,502,807 (GRCm39)	missense	probably benign	0.10
R6170:Gm14295	UTSW	2	176,502,937 (GRCm39)	unclassified	probably benign
R6267:Gm14295	UTSW	2	176,500,782 (GRCm39)	nonsense	probably null
R6286:Gm14295	UTSW	2	176,501,361 (GRCm39)	missense	possibly damaging	0.52
R7456:Gm14295	UTSW	2	176,500,943 (GRCm39)	missense	possibly damaging	0.95
R7536:Gm14295	UTSW	2	176,502,722 (GRCm39)	missense	possibly damaging	0.74
R8049:Gm14295	UTSW	2	176,500,871 (GRCm39)	missense	probably benign	0.03
R8126:Gm14295	UTSW	2	176,502,658 (GRCm39)	missense	probably benign	0.04
R8209:Gm14295	UTSW	2	176,502,970 (GRCm39)	missense	unknown
R8292:Gm14295	UTSW	2	176,501,351 (GRCm39)	missense	probably damaging	0.99
R8356:Gm14295	UTSW	2	176,501,307 (GRCm39)	missense	probably benign	0.24
R8412:Gm14295	UTSW	2	176,501,422 (GRCm39)	missense	probably damaging	1.00
R8993:Gm14295	UTSW	2	176,501,623 (GRCm39)	missense	possibly damaging	0.48
R9459:Gm14295	UTSW	2	176,499,165 (GRCm39)	missense	possibly damaging	0.88
R9562:Gm14295	UTSW	2	176,499,162 (GRCm39)	missense	probably benign	0.34
R9565:Gm14295	UTSW	2	176,499,162 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- CCTTTGCAAGAAGTGGTGACC -3'
(R):5'- TTTCTGCAAAGGCTTTACCACA -3'

Sequencing Primer
(F):5'- GTGGTAAAGCCTTTGCACATAGC -3'
(R):5'- GCTATGTGCAAAGGCTTTACCAC -3'

Posted On

2018-08-29