Mutagenetix > Incidental Mutation

Incidental Mutation 'R2411:Gm14295'

249975

Institutional Source

Beutler Lab

Gene Symbol

Gm14295

Ensembl Gene

ENSMUSG00000078877

Gene Name

predicted gene 14295

Synonyms

MMRRC Submission

040376-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.098) question?

Stock #

R2411 (G1)

Quality Score

201

Status

Not validated

Chromosome

Chromosomal Location

176490405-176503016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 176499206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 19 (A19S)

Ref Sequence

ENSEMBL: ENSMUSP00000119262 (fasta)

Gene Model

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

AlphaFold

A2BG91

Predicted Effect

probably benign
Transcript: ENSMUST00000118012
AA Change: A19S

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000113133
Gene: ENSMUSG00000078877
AA Change: A19S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132883
AA Change: A19S

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: A19S

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
AA Change: A18S

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136320
Gene: ENSMUSG00000078877
AA Change: A18S

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 93.9%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
4933402D24Rik	A	G	1: 63,795,373 (GRCm39)		probably benign	Het
9030612E09Rik	G	T	10: 43,050,796 (GRCm39)	R30L	possibly damaging	Het
Aadacl2	A	G	3: 59,924,844 (GRCm39)	D137G	possibly damaging	Het
Acad11	T	G	9: 103,963,222 (GRCm39)		probably benign	Het
Acap1	A	T	11: 69,776,311 (GRCm39)	N229K	probably damaging	Het
Agbl1	A	G	7: 76,369,898 (GRCm39)	T666A	probably damaging	Het
Btbd16	T	C	7: 130,391,954 (GRCm39)	F160L	probably damaging	Het
Clock	A	C	5: 76,379,360 (GRCm39)	H525Q	probably benign	Het
Col6a1	G	T	10: 76,546,922 (GRCm39)	Q767K	unknown	Het
Creld1	A	G	6: 113,466,737 (GRCm39)	H240R	probably benign	Het
Dlg4	G	A	11: 69,932,755 (GRCm39)		probably null	Het
Fam204a	A	T	19: 60,187,870 (GRCm39)	*237R	probably null	Het
Filip1	T	A	9: 79,805,715 (GRCm39)	N13I	probably damaging	Het
Hddc3	A	T	7: 79,993,341 (GRCm39)	Q56L	probably damaging	Het
Hes6	A	C	1: 91,340,986 (GRCm39)		probably null	Het
Hormad1	A	G	3: 95,487,326 (GRCm39)	D270G	probably benign	Het
Ifitm1	A	G	7: 140,549,711 (GRCm39)		probably null	Het
Igbp1b	A	C	6: 138,634,871 (GRCm39)	V191G	probably damaging	Het
Impg2	T	A	16: 56,072,517 (GRCm39)	N316K	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Lilra6	T	C	7: 3,914,453 (GRCm39)	Y566C	probably damaging	Het
Map4k4	A	G	1: 40,046,656 (GRCm39)	D775G	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Mybpc2	G	A	7: 44,155,662 (GRCm39)	R864W	probably damaging	Het
Nckap1l	C	A	15: 103,391,995 (GRCm39)	P810Q	probably damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or14c44	T	C	7: 86,062,290 (GRCm39)	V281A	possibly damaging	Het
Or1ad1	A	G	11: 50,875,758 (GRCm39)	T77A	probably damaging	Het
Or4a27	C	T	2: 88,559,741 (GRCm39)	M67I	probably benign	Het
Ppp2r3c	T	C	12: 55,345,269 (GRCm39)	K73R	probably benign	Het
Ptpru	A	T	4: 131,498,780 (GRCm39)	F1311Y	probably damaging	Het
Ror2	G	A	13: 53,284,980 (GRCm39)	P144L	possibly damaging	Het
Setd2	A	G	9: 110,379,497 (GRCm39)	E1104G	possibly damaging	Het
St14	G	A	9: 31,019,530 (GRCm39)	T97I	probably benign	Het
Stag3	A	G	5: 138,281,290 (GRCm39)		probably benign	Het
Sytl3	T	C	17: 7,003,892 (GRCm39)	S326P	probably damaging	Het
Tor1b	G	T	2: 30,845,824 (GRCm39)	S167I	probably damaging	Het
Ttn	T	A	2: 76,568,359 (GRCm39)	E27511D	probably damaging	Het
Uso1	T	A	5: 92,306,258 (GRCm39)		probably benign	Het
Vmn1r10	G	T	6: 57,091,124 (GRCm39)	V239F	probably benign	Het
Vps35l	G	C	7: 118,391,818 (GRCm39)	A410P	probably damaging	Het
Zfp160	C	T	17: 21,246,007 (GRCm39)	R186C	possibly damaging	Het
Zfp869	A	G	8: 70,159,179 (GRCm39)	C465R	probably damaging	Het
Zfp957	T	C	14: 79,451,782 (GRCm39)	K6E	unknown	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
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
R6743:Gm14295	UTSW	2	176,502,420 (GRCm39)	missense	probably damaging	1.00
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'- TTGTTGTCCAACTGTGAAAGACTG -3'
(R):5'- CCCAGTACCAGAGAAAGTATGTTAC -3'

Sequencing Primer
(F):5'- CTGGATAAAAAGTACTATGTGGGTG -3'
(R):5'- CCATTGAACTTTAAAACCATGAGTG -3'

Posted On

2014-11-12