Mutagenetix > Incidental Mutation

Incidental Mutation 'R1919:Gm3604'

212877

Institutional Source

Beutler Lab

Gene Symbol

Gm3604

Ensembl Gene

ENSMUSG00000094942

Gene Name

predicted gene 3604

Synonyms

MMRRC Submission

039937-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R1919 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

62368328-62383177 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 62369942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 201 (H201N)

Ref Sequence

ENSEMBL: ENSMUSP00000139845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107989] [ENSMUST00000187656] [ENSMUST00000202194]

AlphaFold

A0A087WPN2

Predicted Effect

probably benign
Transcript: ENSMUST00000107989
AA Change: H200N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: H200N

Domain	Start	End	E-Value	Type
KRAB	3	65	4.49e-17	SMART
ZnF_C2H2	132	154	2.71e-2	SMART
ZnF_C2H2	160	182	1.3e-4	SMART
ZnF_C2H2	188	210	5.21e-4	SMART
ZnF_C2H2	216	238	1.82e-3	SMART
ZnF_C2H2	244	266	7.78e-3	SMART
ZnF_C2H2	272	294	3.69e-4	SMART
ZnF_C2H2	300	322	3.95e-4	SMART
ZnF_C2H2	328	350	9.08e-4	SMART
ZnF_C2H2	356	378	1.45e-2	SMART
ZnF_C2H2	384	406	1.92e-2	SMART
ZnF_C2H2	412	434	1.3e-4	SMART
ZnF_C2H2	440	462	4.87e-4	SMART
ZnF_C2H2	468	490	1.4e-4	SMART
ZnF_C2H2	496	518	3.95e-4	SMART
ZnF_C2H2	524	546	2.29e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187656
AA Change: H201N

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: H201N

Domain	Start	End	E-Value	Type
KRAB	4	66	1.9e-19	SMART
ZnF_C2H2	133	155	1.2e-4	SMART
ZnF_C2H2	161	183	5.5e-7	SMART
ZnF_C2H2	189	211	2.3e-6	SMART
ZnF_C2H2	217	239	7.5e-6	SMART
ZnF_C2H2	245	267	3.4e-5	SMART
ZnF_C2H2	273	295	1.5e-6	SMART
ZnF_C2H2	301	323	1.7e-6	SMART
ZnF_C2H2	329	351	3.7e-6	SMART
ZnF_C2H2	357	379	6.3e-5	SMART
ZnF_C2H2	385	407	7.8e-5	SMART
ZnF_C2H2	413	435	5.5e-7	SMART
ZnF_C2H2	441	463	2e-6	SMART
ZnF_C2H2	469	491	5.8e-7	SMART
ZnF_C2H2	497	519	1.6e-6	SMART
ZnF_C2H2	525	547	9.6e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202194

SMART Domains

Protein: ENSMUSP00000144048
Gene: ENSMUSG00000094942

Domain	Start	End	E-Value	Type
KRAB	4	65	1.2e-19	SMART

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,067,270	E740G	probably damaging	Het
4930474N05Rik	G	T	14: 36,095,457	V105F	possibly damaging	Het
4932438A13Rik	A	G	3: 37,006,983		probably null	Het
Actr10	A	G	12: 70,942,330	I74M	probably benign	Het
Aen	T	C	7: 78,905,912	Y108H	probably damaging	Het
Afm	A	T	5: 90,524,920	K205*	probably null	Het
Ankrd27	T	A	7: 35,632,985	S846T	probably benign	Het
Ano3	A	G	2: 110,885,007	S29P	probably benign	Het
Apaf1	C	T	10: 91,077,614	W138*	probably null	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Arhgef4	A	G	1: 34,811,140	Q1798R	probably damaging	Het
Astn1	G	A	1: 158,509,971	V416I	probably damaging	Het
Atxn2l	G	A	7: 126,493,168	T70I	probably damaging	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bspry	T	A	4: 62,494,797	C256S	probably damaging	Het
C3	C	A	17: 57,220,135	W771C	probably damaging	Het
Camkv	A	G	9: 107,947,088	D233G	possibly damaging	Het
Catsperd	T	A	17: 56,635,548	V109E	probably damaging	Het
Cd101	A	G	3: 101,018,917	L162P	probably damaging	Het
Cdr2l	A	G	11: 115,392,777	T154A	probably damaging	Het
Clca3a2	G	C	3: 144,810,696	Q380E	probably benign	Het
Col6a3	T	C	1: 90,822,359	N251S	possibly damaging	Het
Cttnbp2nl	A	G	3: 105,011,278	V82A	possibly damaging	Het
Cux1	G	A	5: 136,363,319	Q194*	probably null	Het
Daam2	T	C	17: 49,485,457	E361G	probably benign	Het
Dcaf17	A	T	2: 71,078,172		probably null	Het
Dnaic1	T	C	4: 41,570,020		probably null	Het
Eml5	T	C	12: 98,798,839	Y1617C	probably damaging	Het
Epb41l4b	T	C	4: 57,040,993	E490G	probably damaging	Het
Epha7	T	C	4: 28,963,969	M988T	possibly damaging	Het
Fancm	T	C	12: 65,105,520	C917R	possibly damaging	Het
Fnip1	C	T	11: 54,480,684	T177I	probably damaging	Het
Gm12169	A	G	11: 46,528,531	D58G	possibly damaging	Het
Gnpda1	T	C	18: 38,333,190		probably null	Het
Gpatch8	A	G	11: 102,508,142		probably null	Het
H2-M3	T	C	17: 37,271,189	Y179H	possibly damaging	Het
H2-Q10	C	A	17: 35,470,488	S62R	probably damaging	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Hrg	A	T	16: 22,954,457	Q113H	probably damaging	Het
Kcnj16	T	C	11: 111,024,953	V147A	possibly damaging	Het
Kif1a	T	C	1: 93,019,031	I1650V	possibly damaging	Het
Kmt2a	C	T	9: 44,820,345		probably benign	Het
Krt90	A	T	15: 101,557,230	Y319N	probably damaging	Het
Lipo4	T	C	19: 33,499,271	N359S	possibly damaging	Het
Lrp1b	G	T	2: 41,728,729	T225K	probably benign	Het
Map1a	C	T	2: 121,307,012	P2532S	probably damaging	Het
Mmrn2	A	G	14: 34,397,643	D193G	probably benign	Het
Mpped2	T	A	2: 106,867,032	I284N	probably damaging	Het
Msh6	A	G	17: 87,985,125	H436R	probably benign	Het
Mterf3	A	T	13: 66,930,062	S48T	probably damaging	Het
Muc5b	T	C	7: 141,846,031	F414L	unknown	Het
Mylk4	A	T	13: 32,724,853	D90E	probably benign	Het
Nploc4	A	G	11: 120,404,229	Y420H	probably damaging	Het
Npr2	T	A	4: 43,640,578	Y344N	probably damaging	Het
Nsun5	A	G	5: 135,375,598	T397A	probably benign	Het
Ntsr2	A	T	12: 16,654,110	Q204L	probably damaging	Het
Nwd2	T	A	5: 63,806,180	Y1036N	probably damaging	Het
Oacyl	T	C	18: 65,710,547	V105A	possibly damaging	Het
Olfr791	T	A	10: 129,527,049	V274D	probably damaging	Het
Parp3	T	A	9: 106,475,117	Q70L	possibly damaging	Het
Parp4	T	C	14: 56,624,017	S936P	probably damaging	Het
Pdzd3	T	C	9: 44,250,303	D93G	possibly damaging	Het
Phkb	A	G	8: 85,922,161	E202G	probably benign	Het
Pink1	T	C	4: 138,314,020	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119	D338G	probably damaging	Het
Prss8	G	T	7: 127,929,858	L9I	probably benign	Het
Ptpn22	G	A	3: 103,876,738		probably null	Het
Rad54b	A	C	4: 11,601,693	N416T	probably damaging	Het
Rasef	A	G	4: 73,744,114	S200P	possibly damaging	Het
Rb1	T	A	14: 73,212,990	K645*	probably null	Het
Robo2	C	T	16: 73,899,154	G1367D	probably benign	Het
Rp1	A	G	1: 4,352,671	V52A	probably damaging	Het
Samd13	T	C	3: 146,662,712	T23A	probably benign	Het
Scn7a	T	C	2: 66,699,973	H676R	probably damaging	Het
Serpinb6b	A	G	13: 32,978,240	I222V	probably benign	Het
Slc2a8	T	C	2: 32,980,079	Y150C	probably damaging	Het
Slc7a6os	C	A	8: 106,210,564	R88L	probably damaging	Het
Slc8a2	A	G	7: 16,152,920	I657V	probably benign	Het
Slit2	C	A	5: 48,191,016		probably benign	Het
Spire2	A	G	8: 123,363,071	D447G	probably benign	Het
Sptlc3	A	G	2: 139,566,675	N237D	possibly damaging	Het
Stk3	G	A	15: 35,073,217	T119I	probably damaging	Het
Suv39h2	G	A	2: 3,464,316	T334I	probably damaging	Het
Syt5	G	T	7: 4,540,279	T327N	probably damaging	Het
Tcof1	T	C	18: 60,816,084	D1253G	possibly damaging	Het
Tnks	A	T	8: 34,875,232	V388D	probably damaging	Het
Ugt2b1	T	C	5: 86,926,000	T167A	probably benign	Het
Usp40	G	A	1: 87,995,842	R236C	possibly damaging	Het
Utrn	T	C	10: 12,455,480	D2904G	probably benign	Het
Vmn1r226	T	C	17: 20,687,580	S25P	probably damaging	Het
Vmn2r23	T	C	6: 123,713,010	S282P	possibly damaging	Het
Vps45	T	C	3: 96,046,440	E200G	probably benign	Het
Wnt7b	T	A	15: 85,559,080	I41F	probably damaging	Het
Zmym6	T	A	4: 127,103,414	N275K	probably damaging	Het

Other mutations in Gm3604

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Gm3604	APN	13	62370140	missense	probably damaging	1.00
IGL02601:Gm3604	APN	13	62370176	missense	possibly damaging	0.79
IGL03386:Gm3604	APN	13	62370167	missense	possibly damaging	0.95
R1539:Gm3604	UTSW	13	62371600	missense	possibly damaging	0.70
R1771:Gm3604	UTSW	13	62370074	nonsense	probably null
R1776:Gm3604	UTSW	13	62370074	nonsense	probably null
R1954:Gm3604	UTSW	13	62369211	missense	probably damaging	0.97
R2093:Gm3604	UTSW	13	62369606	missense	possibly damaging	0.50
R2291:Gm3604	UTSW	13	62371843	missense	probably damaging	0.99
R2909:Gm3604	UTSW	13	62369018	missense	probably benign	0.43
R3195:Gm3604	UTSW	13	62370054	nonsense	probably null
R3196:Gm3604	UTSW	13	62370054	nonsense	probably null
R3924:Gm3604	UTSW	13	62370230	missense	probably damaging	0.99
R4328:Gm3604	UTSW	13	62369265	missense	possibly damaging	0.88
R4543:Gm3604	UTSW	13	62370156	missense	probably benign
R4830:Gm3604	UTSW	13	62369043	missense	probably damaging	0.98
R5129:Gm3604	UTSW	13	62369774	missense	probably benign	0.00
R5496:Gm3604	UTSW	13	62371579	missense	possibly damaging	0.85
R6184:Gm3604	UTSW	13	62371845	missense	probably damaging	1.00
R6426:Gm3604	UTSW	13	62369622	missense	probably damaging	1.00
R6925:Gm3604	UTSW	13	62369390	missense	probably benign	0.16
R7080:Gm3604	UTSW	13	62370295	missense	probably damaging	1.00
R7182:Gm3604	UTSW	13	62371875	missense	probably damaging	0.99
R7572:Gm3604	UTSW	13	62370246	missense	probably damaging	1.00
R7750:Gm3604	UTSW	13	62369996	missense	possibly damaging	0.92
R7960:Gm3604	UTSW	13	62369773	missense	probably damaging	0.97
R8023:Gm3604	UTSW	13	62369869	missense	probably damaging	1.00
R8062:Gm3604	UTSW	13	62370341	missense	probably damaging	0.98
R8093:Gm3604	UTSW	13	62369549	missense	probably damaging	0.99
R8532:Gm3604	UTSW	13	62368955	missense	possibly damaging	0.57
R9262:Gm3604	UTSW	13	62369883	missense	probably damaging	0.99
R9659:Gm3604	UTSW	13	62371910	missense	possibly damaging	0.93
R9673:Gm3604	UTSW	13	62370155	missense	probably benign	0.00
R9788:Gm3604	UTSW	13	62371910	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GACTGTATTGGGAAAAGGCTTTATC -3'
(R):5'- CTGAAGTTATTCACTGTGTCGAAG -3'

Sequencing Primer
(F):5'- TGGGAAAAGGCTTTATCACATTG -3'
(R):5'- TGGACAGAAGCCCTATGAATGTAATC -3'

Posted On

2014-07-14