Mutagenetix > Incidental Mutation

Incidental Mutation 'R4830:Gm3604'

372757

Institutional Source

Beutler Lab

Gene Symbol

Gm3604

Ensembl Gene

ENSMUSG00000094942

Gene Name

predicted gene 3604

Synonyms

MMRRC Submission

042446-MU

Accession Numbers

Essential gene?

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

Stock #

R4830 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62516142-62530991 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62516857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 500 (N500K)

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: N499K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000103623
Gene: ENSMUSG00000094942
AA Change: N499K

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 damaging
Transcript: ENSMUST00000187656
AA Change: N500K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139845
Gene: ENSMUSG00000094942
AA Change: N500K

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

97% (71/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd3	C	A	3: 121,553,933 (GRCm39)	G643V	probably damaging	Het
Adamtsl1	A	G	4: 86,274,619 (GRCm39)	E1225G	probably damaging	Het
Agbl5	G	A	5: 31,048,059 (GRCm39)	R111H	probably damaging	Het
Ankle2	A	C	5: 110,389,879 (GRCm39)	K446Q	probably damaging	Het
Boc	A	C	16: 44,310,520 (GRCm39)	M800R	probably damaging	Het
Ccnt1	A	T	15: 98,441,332 (GRCm39)	N645K	probably damaging	Het
Cd93	G	A	2: 148,285,299 (GRCm39)	Q16*	probably null	Het
Cpsf4l	G	T	11: 113,600,328 (GRCm39)		probably benign	Het
Cuzd1	T	A	7: 130,919,783 (GRCm39)	D111V	probably damaging	Het
Dab2	T	C	15: 6,457,008 (GRCm39)	C232R	probably benign	Het
Dmpk	A	T	7: 18,821,453 (GRCm39)	Y237F	probably damaging	Het
Dnah6	T	A	6: 73,021,745 (GRCm39)	T3526S	possibly damaging	Het
Dock2	T	C	11: 34,223,767 (GRCm39)		probably null	Het
Dsp	G	A	13: 38,376,840 (GRCm39)	V1542I	probably benign	Het
Dst	T	A	1: 34,237,586 (GRCm39)		probably null	Het
Esd	T	C	14: 74,978,600 (GRCm39)	L54S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Grhl2	T	A	15: 37,335,903 (GRCm39)		probably null	Het
Gsto1	C	T	19: 47,852,830 (GRCm39)	R222C	probably benign	Het
Inpp4a	T	A	1: 37,410,861 (GRCm39)	M343K	probably damaging	Het
Itpripl2	T	C	7: 118,090,280 (GRCm39)	Q93R	probably benign	Het
Jakmip2	G	A	18: 43,700,208 (GRCm39)	T450I	probably benign	Het
Kdm6b	A	T	11: 69,294,620 (GRCm39)	I1186N	unknown	Het
Kif1a	T	C	1: 92,948,931 (GRCm39)		probably null	Het
Klhl20	T	C	1: 160,925,946 (GRCm39)	K434R	probably benign	Het
Lemd3	T	C	10: 120,767,853 (GRCm39)	D697G	probably damaging	Het
Lipo3	A	G	19: 33,753,987 (GRCm39)	S383P	probably damaging	Het
Ltn1	C	A	16: 87,176,582 (GRCm39)	K1741N	probably damaging	Het
Lvrn	A	T	18: 47,038,418 (GRCm39)	T991S	probably damaging	Het
Macroh2a2	C	T	10: 61,575,132 (GRCm39)	D355N	possibly damaging	Het
Mast3	C	A	8: 71,241,559 (GRCm39)	R151L	possibly damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Myoz1	T	C	14: 20,705,377 (GRCm39)	K14E	probably damaging	Het
Neb	G	T	2: 52,082,532 (GRCm39)	Q5450K	probably damaging	Het
Nedd1	T	A	10: 92,522,120 (GRCm39)	N639I	probably damaging	Het
Nlrp4e	A	T	7: 23,036,165 (GRCm39)	N673Y	probably benign	Het
Nop53	C	T	7: 15,676,129 (GRCm39)	R190Q	probably damaging	Het
Notch4	T	C	17: 34,789,092 (GRCm39)	Y468H	probably damaging	Het
Obscn	T	C	11: 58,958,433 (GRCm39)	T3507A	probably damaging	Het
Opn5	T	C	17: 42,922,187 (GRCm39)	H5R	probably benign	Het
Or4l15	T	C	14: 50,197,681 (GRCm39)	N283D	probably damaging	Het
Patl1	T	C	19: 11,902,515 (GRCm39)	M349T	probably benign	Het
Phactr3	A	G	2: 177,925,811 (GRCm39)	N362S	probably damaging	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Rapgef5	G	A	12: 117,719,809 (GRCm39)	R579Q	probably damaging	Het
Rgl1	T	C	1: 152,430,081 (GRCm39)	D234G	probably benign	Het
Serpinb3a	C	T	1: 106,976,316 (GRCm39)	E122K	probably benign	Het
Slc22a15	T	C	3: 101,782,919 (GRCm39)		probably benign	Het
Slc25a12	A	T	2: 71,127,149 (GRCm39)	V344E	probably damaging	Het
Slc43a2	T	C	11: 75,434,119 (GRCm39)	L99P	probably damaging	Het
Smim27	G	T	4: 40,269,719 (GRCm39)		probably null	Het
Smtn	A	G	11: 3,470,736 (GRCm39)		probably benign	Het
Szt2	A	T	4: 118,226,445 (GRCm39)	Y3001N	unknown	Het
Tgfbr3	G	T	5: 107,257,585 (GRCm39)	P825T	probably damaging	Het
Tnpo3	T	C	6: 29,568,937 (GRCm39)	T472A	probably benign	Het
Trf	T	A	9: 103,105,114 (GRCm39)	D66V	probably damaging	Het
Vmn1r124	A	G	7: 20,993,624 (GRCm39)	C307R	probably damaging	Het
Vps13b	T	A	15: 35,452,370 (GRCm39)	F656Y	possibly damaging	Het
Zic1	G	T	9: 91,244,584 (GRCm39)	S358R	probably 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
R3196: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
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'- AGGTTGCTCACAATGAAATTCC -3'
(R):5'- ACTCATAGAAGAACACATACTGGAG -3'

Sequencing Primer
(F):5'- GCTCACAATGAAATTCCTTCGTAG -3'
(R):5'- TGGAGAGAAACCCTACAAATGTAATC -3'

Posted On

2016-03-01