Mutagenetix > Incidental Mutation

Incidental Mutation 'R3196:Gm3604'

267667

Institutional Source

Beutler Lab

Gene Symbol

Gm3604

Ensembl Gene

ENSMUSG00000094942

Gene Name

predicted gene 3604

Synonyms

MMRRC Submission

040617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R3196 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

62516142-62530991 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 62517868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 163 (C163*)

Ref Sequence

ENSEMBL: ENSMUSP00000139845 (fasta)

Gene Model

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

AlphaFold

A0A087WPN2

Predicted Effect

probably null
Transcript: ENSMUST00000107989
AA Change: C162*

SMART Domains

Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: C162*

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 null
Transcript: ENSMUST00000187656
AA Change: C163*

SMART Domains

Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: C163*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	A	T	15: 57,892,132 (GRCm39)	N158K	probably benign	Het
Acnat1	G	C	4: 49,447,457 (GRCm39)	P357A	probably damaging	Het
Akap6	T	A	12: 53,119,240 (GRCm39)	C1102*	probably null	Het
Amelx	T	C	X: 167,964,826 (GRCm39)		probably benign	Het
Brap	G	A	5: 121,803,259 (GRCm39)	V136I	possibly damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Csgalnact1	TGG	TG	8: 68,913,737 (GRCm39)		probably null	Het
Csk	A	T	9: 57,537,556 (GRCm39)	C119*	probably null	Het
Dcbld1	T	C	10: 52,195,587 (GRCm39)	L265P	probably damaging	Het
Desi1	T	A	15: 81,887,976 (GRCm39)	K31N	probably damaging	Het
Dpy19l2	C	A	9: 24,607,285 (GRCm39)	G59C	probably damaging	Het
Eif2b5	T	C	16: 20,324,272 (GRCm39)	V498A	probably benign	Het
Epdr1	A	T	13: 19,778,815 (GRCm39)	Y94N	probably damaging	Het
Fat1	T	C	8: 45,404,905 (GRCm39)	V552A	probably benign	Het
Focad	A	G	4: 88,325,588 (GRCm39)	E151G	possibly damaging	Het
Frem1	A	G	4: 82,932,351 (GRCm39)	F117L	probably damaging	Het
Frem2	A	T	3: 53,444,752 (GRCm39)	Y2460N	probably damaging	Het
Gpalpp1	A	C	14: 76,336,063 (GRCm39)		probably null	Het
Grid2ip	A	G	5: 143,373,933 (GRCm39)	I858V	probably damaging	Het
Grin2b	ATTGTTGT	ATTGT	6: 135,709,453 (GRCm39)		probably benign	Het
Hps4	A	G	5: 112,512,429 (GRCm39)	T182A	probably damaging	Het
Impa1	A	T	3: 10,394,075 (GRCm39)		probably null	Het
Kcnh3	T	C	15: 99,131,862 (GRCm39)	S606P	probably damaging	Het
Kif23	T	A	9: 61,839,193 (GRCm39)	R301*	probably null	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lcp2	G	T	11: 34,040,670 (GRCm39)	A529S	probably benign	Het
Lhx8	G	A	3: 154,035,925 (GRCm39)	A22V	probably benign	Het
Lin28a	A	T	4: 133,735,235 (GRCm39)	S134T	possibly damaging	Het
Med27	T	A	2: 29,236,882 (GRCm39)	V9E	possibly damaging	Het
Mmp7	C	A	9: 7,692,219 (GRCm39)	S31R	probably benign	Het
Mtcl1	T	G	17: 66,650,829 (GRCm39)	E1545D	probably benign	Het
Muc16	A	G	9: 18,409,126 (GRCm39)	Y187H	probably damaging	Het
Myo3a	G	T	2: 22,404,679 (GRCm39)	K678N	possibly damaging	Het
Nsmce1	T	C	7: 125,085,645 (GRCm39)	M15V	probably benign	Het
Nxpe3	A	T	16: 55,670,078 (GRCm39)	N342K	probably damaging	Het
Or7g25	A	G	9: 19,160,495 (GRCm39)	S67P	probably damaging	Het
Or8g2	T	A	9: 39,821,756 (GRCm39)	I219N	probably damaging	Het
Pcdhb9	A	G	18: 37,534,663 (GRCm39)	N219S	probably benign	Het
Pck2	T	A	14: 55,781,449 (GRCm39)	V190E	probably damaging	Het
Pde4b	G	A	4: 102,456,840 (GRCm39)	A429T	probably damaging	Het
Phf1	T	C	17: 27,153,429 (GRCm39)	V54A	probably damaging	Het
Pla2r1	T	C	2: 60,353,127 (GRCm39)	E278G	probably damaging	Het
Ptges3	G	T	10: 127,908,016 (GRCm39)	R122L	probably benign	Het
Rnpepl1	C	T	1: 92,844,881 (GRCm39)	T391I	probably damaging	Het
Rps6kb1	G	A	11: 86,397,633 (GRCm39)	A404V	probably benign	Het
Rrm2b	T	C	15: 37,945,391 (GRCm39)		probably null	Het
Sh3rf1	C	T	8: 61,679,321 (GRCm39)	P121L	probably benign	Het
Skint9	T	G	4: 112,248,148 (GRCm39)	I199L	probably benign	Het
Slc9b2	G	T	3: 135,042,290 (GRCm39)	R523L	probably benign	Het
Slco1c1	T	A	6: 141,477,174 (GRCm39)		probably null	Het
Stox2	T	C	8: 47,645,865 (GRCm39)	T532A	probably damaging	Het
Tbcel	A	G	9: 42,327,248 (GRCm39)	L385P	probably damaging	Het
Tle5	A	G	10: 81,401,474 (GRCm39)	N181D	probably benign	Het
Tmem268	G	A	4: 63,496,149 (GRCm39)		probably null	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top3a	G	A	11: 60,650,182 (GRCm39)	T122M	probably damaging	Het
Trav7n-4	G	A	14: 53,329,088 (GRCm39)	V33I	probably benign	Het
Ttn	T	G	2: 76,539,551 (GRCm39)	E26151D	possibly damaging	Het
Ttn	C	T	2: 76,687,228 (GRCm39)		probably benign	Het
Tyk2	A	G	9: 21,035,328 (GRCm39)	C195R	possibly damaging	Het
Ugt2b38	T	C	5: 87,558,078 (GRCm39)	K528E	probably damaging	Het
Usp28	T	A	9: 48,937,125 (GRCm39)	D483E	probably benign	Het
Vldlr	A	G	19: 27,220,554 (GRCm39)	D598G	probably damaging	Het
Vmn1r51	T	G	6: 90,106,498 (GRCm39)	I138S	probably damaging	Het
Vps13b	G	A	15: 35,869,541 (GRCm39)	A2682T	probably damaging	Het
Wac	T	A	18: 7,917,568 (GRCm39)	V346E	probably damaging	Het
Zdbf2	T	C	1: 63,347,579 (GRCm39)	V1986A	possibly damaging	Het

Other mutations in Gm3604

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01869:Gm3604	APN	13	62,517,954 (GRCm39)	missense	probably damaging	1.00
IGL02601:Gm3604	APN	13	62,517,990 (GRCm39)	missense	possibly damaging	0.79
IGL03386:Gm3604	APN	13	62,517,981 (GRCm39)	missense	possibly damaging	0.95
R1539:Gm3604	UTSW	13	62,519,414 (GRCm39)	missense	possibly damaging	0.70
R1771:Gm3604	UTSW	13	62,517,888 (GRCm39)	nonsense	probably null
R1776:Gm3604	UTSW	13	62,517,888 (GRCm39)	nonsense	probably null
R1919:Gm3604	UTSW	13	62,517,756 (GRCm39)	missense	probably benign	0.02
R1954:Gm3604	UTSW	13	62,517,025 (GRCm39)	missense	probably damaging	0.97
R2093:Gm3604	UTSW	13	62,517,420 (GRCm39)	missense	possibly damaging	0.50
R2291:Gm3604	UTSW	13	62,519,657 (GRCm39)	missense	probably damaging	0.99
R2909:Gm3604	UTSW	13	62,516,832 (GRCm39)	missense	probably benign	0.43
R3195:Gm3604	UTSW	13	62,517,868 (GRCm39)	nonsense	probably null
R3924:Gm3604	UTSW	13	62,518,044 (GRCm39)	missense	probably damaging	0.99
R4328:Gm3604	UTSW	13	62,517,079 (GRCm39)	missense	possibly damaging	0.88
R4543:Gm3604	UTSW	13	62,517,970 (GRCm39)	missense	probably benign
R4830:Gm3604	UTSW	13	62,516,857 (GRCm39)	missense	probably damaging	0.98
R5129:Gm3604	UTSW	13	62,517,588 (GRCm39)	missense	probably benign	0.00
R5496:Gm3604	UTSW	13	62,519,393 (GRCm39)	missense	possibly damaging	0.85
R6184:Gm3604	UTSW	13	62,519,659 (GRCm39)	missense	probably damaging	1.00
R6426:Gm3604	UTSW	13	62,517,436 (GRCm39)	missense	probably damaging	1.00
R6925:Gm3604	UTSW	13	62,517,204 (GRCm39)	missense	probably benign	0.16
R7080:Gm3604	UTSW	13	62,518,109 (GRCm39)	missense	probably damaging	1.00
R7182:Gm3604	UTSW	13	62,519,689 (GRCm39)	missense	probably damaging	0.99
R7572:Gm3604	UTSW	13	62,518,060 (GRCm39)	missense	probably damaging	1.00
R7750:Gm3604	UTSW	13	62,517,810 (GRCm39)	missense	possibly damaging	0.92
R7960:Gm3604	UTSW	13	62,517,587 (GRCm39)	missense	probably damaging	0.97
R8023:Gm3604	UTSW	13	62,517,683 (GRCm39)	missense	probably damaging	1.00
R8062:Gm3604	UTSW	13	62,518,155 (GRCm39)	missense	probably damaging	0.98
R8093:Gm3604	UTSW	13	62,517,363 (GRCm39)	missense	probably damaging	0.99
R8532:Gm3604	UTSW	13	62,516,769 (GRCm39)	missense	possibly damaging	0.57
R9262:Gm3604	UTSW	13	62,517,697 (GRCm39)	missense	probably damaging	0.99
R9659:Gm3604	UTSW	13	62,519,724 (GRCm39)	missense	possibly damaging	0.93
R9673:Gm3604	UTSW	13	62,517,969 (GRCm39)	missense	probably benign	0.00
R9788:Gm3604	UTSW	13	62,519,724 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TGGAGACTACATTTCTCAGAAAAGGC -3'
(R):5'- CAGAAAAGATCCCCTCTGAAGTTATTC -3'

Sequencing Primer
(F):5'- TCTCAGAAAAGGCTTTATCACATTG -3'
(R):5'- CTCTGAAGTTATTCACTGTGTCGAAG -3'

Posted On

2015-02-18