Mutagenetix > Incidental Mutations

Incidental Mutation 'R1878:Gm14139'

211284

Institutional Source

Beutler Lab

Gene Symbol

Gm14139

Ensembl Gene

ENSMUSG00000079009

Gene Name

predicted gene 14139

Synonyms

MMRRC Submission

039899-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R1878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150181755-150193279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 150193069 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 437 (C437S)

Ref Sequence

ENSEMBL: ENSMUSP00000105552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109926] [ENSMUST00000109929]

Predicted Effect

probably damaging
Transcript: ENSMUST00000109926
AA Change: C437S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105552
Gene: ENSMUSG00000079009
AA Change: C437S

Domain	Start	End	E-Value	Type
Blast:KRAB	1	34	7e-15	BLAST
ZnF_C2H2	71	93	8.6e-5	SMART
ZnF_C2H2	99	121	1.76e-1	SMART
ZnF_C2H2	127	149	3.02e0	SMART
ZnF_C2H2	183	205	6.08e-5	SMART
ZnF_C2H2	211	233	1.04e-3	SMART
ZnF_C2H2	239	261	2.57e-3	SMART
ZnF_C2H2	267	289	1.06e-4	SMART
ZnF_C2H2	295	317	2.2e-2	SMART
ZnF_C2H2	323	345	4.47e-3	SMART
ZnF_C2H2	351	373	7.37e-4	SMART
ZnF_C2H2	379	401	4.24e-4	SMART
ZnF_C2H2	407	429	1.2e-3	SMART
ZnF_C2H2	435	457	2.61e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109929
AA Change: C468S

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

SMART Domains

Protein: ENSMUSP00000105555
Gene: ENSMUSG00000079009
AA Change: C468S

Domain	Start	End	E-Value	Type
KRAB	3	65	1.65e-15	SMART
ZnF_C2H2	102	124	8.6e-5	SMART
ZnF_C2H2	130	152	1.76e-1	SMART
ZnF_C2H2	158	180	3.02e0	SMART
ZnF_C2H2	214	236	6.08e-5	SMART
ZnF_C2H2	242	264	1.04e-3	SMART
ZnF_C2H2	270	292	2.57e-3	SMART
ZnF_C2H2	298	320	1.06e-4	SMART
ZnF_C2H2	326	348	2.2e-2	SMART
ZnF_C2H2	354	376	4.47e-3	SMART
ZnF_C2H2	382	404	7.37e-4	SMART
ZnF_C2H2	410	432	4.24e-4	SMART
ZnF_C2H2	438	460	1.2e-3	SMART
ZnF_C2H2	466	488	2.61e-4	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,514,638		probably null	Het
Abcb9	A	G	5: 124,090,136	V14A	probably benign	Het
Adcy4	T	C	14: 55,769,905	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,775,509	D828G	possibly damaging	Het
Ak2	T	A	4: 129,002,167	V79D	probably damaging	Het
Arhgap29	T	C	3: 122,011,371	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,087,589	K1222E	probably damaging	Het
Armc1	A	T	3: 19,157,544	D37E	probably damaging	Het
Cenpm	A	T	15: 82,234,415	M166K	probably benign	Het
Cep97	G	T	16: 55,905,226	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,317,395	D672E	probably benign	Het
Col6a2	T	C	10: 76,614,788	D103G	probably benign	Het
Ddi2	T	C	4: 141,684,149	E484G	probably benign	Het
Dph1	T	C	11: 75,184,227	D100G	probably damaging	Het
Dsp	A	T	13: 38,164,855	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,143,216		probably null	Het
Folh1	A	T	7: 86,771,742	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,725,200	D428E	probably benign	Het
Gm11564	A	T	11: 99,815,440	C55S	unknown	Het
Gne	T	C	4: 44,040,434	I577V	probably damaging	Het
Gpr4	A	G	7: 19,223,124	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,320,060	N542I	possibly damaging	Het
Ice2	T	C	9: 69,428,576		probably null	Het
Irgm1	C	T	11: 48,866,070	V305I	probably benign	Het
Itgal	C	A	7: 127,310,671	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,094,104	V141D	possibly damaging	Het
Lrrc9	T	C	12: 72,476,164		probably null	Het
Mcc	T	C	18: 44,468,400	R621G	possibly damaging	Het
Myd88	T	A	9: 119,338,620	Q140L	probably benign	Het
Mylk3	A	T	8: 85,355,399	N323K	possibly damaging	Het
Myrip	C	T	9: 120,424,655	R265W	probably damaging	Het
N4bp1	A	T	8: 86,861,541	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,524,279	S418A	probably damaging	Het
Nlrp9b	A	G	7: 20,028,564	T269A	probably benign	Het
Nmt1	A	G	11: 103,052,251	N144S	probably benign	Het
Npvf	G	A	6: 50,654,323	T24I	probably benign	Het
Obscn	T	G	11: 58,995,553	Y2347S	probably damaging	Het
Olfr1202	A	G	2: 88,817,461	T97A	probably benign	Het
Olfr125	T	C	17: 37,835,362	V121A	probably benign	Het
Olfr135	T	C	17: 38,208,374	I43T	probably benign	Het
Olfr170	G	T	16: 19,605,751	Q306K	probably benign	Het
Olfr345	G	T	2: 36,640,189	R50M	possibly damaging	Het
Olfr624	A	C	7: 103,670,182	M283R	probably damaging	Het
Olfr8	T	A	10: 78,955,805	M200K	possibly damaging	Het
Olfr975	T	A	9: 39,950,757	T5S	probably benign	Het
Osgin2	A	T	4: 16,005,493	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,145,162	K398N	possibly damaging	Het
Pcnp	A	T	16: 56,018,487	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,797,878	I71V	probably benign	Het
Ppp4c	G	T	7: 126,787,607	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,005,326	M1L	probably damaging	Het
Recql5	A	T	11: 115,895,101	D615E	probably benign	Het
Robo3	T	C	9: 37,422,165	E728G	probably damaging	Het
Rps27l	T	A	9: 66,947,629		probably null	Het
Scube3	T	A	17: 28,152,413	V34E	probably benign	Het
Sez6l	A	G	5: 112,475,223	I154T	probably damaging	Het
Sgsm1	G	A	5: 113,263,515	L782F	probably damaging	Het
Slc35c1	A	G	2: 92,459,053	V36A	probably benign	Het
Snapc4	A	G	2: 26,376,153		probably null	Het
Sohlh2	C	A	3: 55,207,643	R350S	probably damaging	Het
Spag1	G	A	15: 36,181,770	E25K	probably damaging	Het
Sspo	G	A	6: 48,459,366	A1217T	possibly damaging	Het
Stil	T	C	4: 115,041,226	S1018P	probably damaging	Het
Strn	T	C	17: 78,677,326	E117G	possibly damaging	Het
Syt17	A	T	7: 118,434,245	M180K	probably benign	Het
Trem1	T	C	17: 48,241,488	S18P	possibly damaging	Het
Tsta3	A	G	15: 75,925,369	S306P	probably benign	Het
Umad1	T	A	6: 8,427,181	F145I	probably damaging	Het
Unc80	A	C	1: 66,509,402	H611P	probably damaging	Het
Zfp709	A	G	8: 71,890,047	E440G	probably damaging	Het
Zfp764	C	A	7: 127,405,042	A306S	probably benign	Het
Zfp949	T	A	9: 88,569,303	S309T	probably damaging	Het
Zswim4	T	C	8: 84,212,776	N826D	possibly damaging	Het

Other mutations in Gm14139

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0254:Gm14139	UTSW	2	150191864	missense	possibly damaging	0.78
R0505:Gm14139	UTSW	2	150193080	nonsense	probably null
R0562:Gm14139	UTSW	2	150192574	missense	probably damaging	1.00
R1239:Gm14139	UTSW	2	150191971	missense	possibly damaging	0.94
R1966:Gm14139	UTSW	2	150191907	missense	probably benign	0.00
R2001:Gm14139	UTSW	2	150192947	missense	probably benign	0.00
R2208:Gm14139	UTSW	2	150193145	missense	probably benign	0.40
R3110:Gm14139	UTSW	2	150192221	missense	probably damaging	1.00
R3112:Gm14139	UTSW	2	150192221	missense	probably damaging	1.00
R4135:Gm14139	UTSW	2	150181868	splice site	probably benign
R4299:Gm14139	UTSW	2	150190733	missense	probably damaging	1.00
R4579:Gm14139	UTSW	2	150192223	missense	probably damaging	1.00
R4818:Gm14139	UTSW	2	150192061	missense	probably damaging	1.00
R4894:Gm14139	UTSW	2	150191979	nonsense	probably null
R5432:Gm14139	UTSW	2	150191981	missense	possibly damaging	0.68
R5669:Gm14139	UTSW	2	150192178	missense	probably benign	0.09
R6106:Gm14139	UTSW	2	150192805	missense	probably damaging	1.00
R6857:Gm14139	UTSW	2	150192062	missense	probably damaging	1.00
R7450:Gm14139	UTSW	2	150193126	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- CTCCAAGTGGATTCCTGTATCATAAAC -3'
(R):5'- ACCATGACTGTCTATGAATACGTTC -3'

Sequencing Primer
(F):5'- CACATACTGGAGAGAGACCATATG -3'
(R):5'- ACGTTCTGAATTCTATGAATACGTTC -3'

Posted On

2014-06-30