Mutagenetix > Incidental Mutation

Incidental Mutation 'R4434:AI597479'

328728

Institutional Source

Beutler Lab

Gene Symbol

AI597479

Ensembl Gene

ENSMUSG00000010290

Gene Name

expressed sequence AI597479

Synonyms

MMRRC Submission

041148-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R4434 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43137870-43155106 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 43139959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 62 (Q62*)

Ref Sequence

ENSEMBL: ENSMUSP00000010434 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010434] [ENSMUST00000095014] [ENSMUST00000189010] [ENSMUST00000190427]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000010434
AA Change: Q62*

SMART Domains

Protein: ENSMUSP00000010434
Gene: ENSMUSG00000010290
AA Change: Q62*

Domain	Start	End	E-Value	Type
Pfam:Ashwin	13	232	8.7e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095014

SMART Domains

Protein: ENSMUSP00000092624
Gene: ENSMUSG00000070939

Domain	Start	End	E-Value	Type
Pfam:CNH	30	293	3.3e-15	PFAM
Pfam:Vps39_1	448	550	3.3e-26	PFAM
Pfam:Clathrin	572	730	5.3e-13	PFAM
Pfam:Vps39_2	738	846	2e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187872

Predicted Effect

probably benign
Transcript: ENSMUST00000189010

Predicted Effect

probably benign
Transcript: ENSMUST00000190427

SMART Domains

Protein: ENSMUSP00000140384
Gene: ENSMUSG00000070939

Domain	Start	End	E-Value	Type
Pfam:CNH	1	53	2e-4	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,781,253 (GRCm39)	Q907L	probably null	Het
Adam6b	A	C	12: 113,454,281 (GRCm39)	Q366P	probably damaging	Het
Akap9	T	A	5: 4,082,708 (GRCm39)	M1944K	probably damaging	Het
Akr1c19	T	C	13: 4,292,615 (GRCm39)	V212A	probably benign	Het
Ank3	C	T	10: 69,822,900 (GRCm39)	S523L	probably damaging	Het
Antxrl	G	A	14: 33,793,574 (GRCm39)		probably benign	Het
Arhgap21	A	G	2: 20,972,146 (GRCm39)	C26R	probably benign	Het
Cdc37l1	T	C	19: 28,985,021 (GRCm39)	F224L	probably damaging	Het
Csmd3	G	A	15: 47,763,191 (GRCm39)	T1215I	possibly damaging	Het
Dnah7c	G	A	1: 46,705,442 (GRCm39)	R2485H	probably damaging	Het
Dnah9	T	A	11: 65,998,901 (GRCm39)	N1049I	possibly damaging	Het
Dnaja3	T	G	16: 4,507,859 (GRCm39)	Y120*	probably null	Het
Ehbp1l1	G	T	19: 5,766,276 (GRCm39)	R412S	possibly damaging	Het
Fam169a	A	G	13: 97,263,248 (GRCm39)	D567G	probably damaging	Het
Gcnt4	T	A	13: 97,082,850 (GRCm39)	Y49N	probably benign	Het
Gm5849	T	A	3: 90,685,182 (GRCm39)	K1M	probably null	Het
Gngt1	A	G	6: 3,994,282 (GRCm39)	D20G	probably benign	Het
Gnptab	A	G	10: 88,248,484 (GRCm39)	N104S	probably damaging	Het
Gpn3	A	G	5: 122,520,115 (GRCm39)	D223G	probably benign	Het
Hectd1	A	T	12: 51,798,835 (GRCm39)	I2095K	probably damaging	Het
Hephl1	C	T	9: 14,988,092 (GRCm39)	R672H	probably damaging	Het
Hpse2	A	G	19: 43,282,708 (GRCm39)	S182P	probably benign	Het
Itgb4	T	A	11: 115,890,640 (GRCm39)	S1109R	probably benign	Het
Itgbl1	A	T	14: 124,209,611 (GRCm39)	D330V	probably damaging	Het
Krt77	A	T	15: 101,773,904 (GRCm39)	V250E	probably damaging	Het
Mycbp2	T	A	14: 103,371,225 (GRCm39)	N4108Y	probably damaging	Het
Nampt	T	C	12: 32,888,362 (GRCm39)	I171T	probably damaging	Het
Nckap5l	A	C	15: 99,320,744 (GRCm39)	S1270A	probably benign	Het
Opa1	A	G	16: 29,430,801 (GRCm39)	I500M	probably damaging	Het
Or10j5	C	T	1: 172,785,111 (GRCm39)	H250Y	probably damaging	Het
Pax8	G	A	2: 24,319,621 (GRCm39)	P350L	possibly damaging	Het
Plxnb2	A	G	15: 89,047,006 (GRCm39)	C772R	probably damaging	Het
Prh1	A	T	6: 132,548,841 (GRCm39)	H116L	unknown	Het
Rgsl1	C	T	1: 153,678,087 (GRCm39)	A114T	possibly damaging	Het
Rln1	A	T	19: 29,311,962 (GRCm39)	F12Y	possibly damaging	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Scube1	A	T	15: 83,606,125 (GRCm39)	I49N	probably damaging	Het
Shank3	C	A	15: 89,387,562 (GRCm39)	L244I	probably damaging	Het
Shc3	T	C	13: 51,603,302 (GRCm39)	T268A	probably benign	Het
Sp7	A	G	15: 102,267,536 (GRCm39)	L90P	probably damaging	Het
Tacc2	G	A	7: 130,225,271 (GRCm39)	S652N	probably damaging	Het
Tacstd2	A	G	6: 67,512,128 (GRCm39)	V188A	possibly damaging	Het
Tasor	G	A	14: 27,171,818 (GRCm39)		probably null	Het
Tex26	T	C	5: 149,376,820 (GRCm39)	S70P	probably benign	Het
Tmc4	C	T	7: 3,675,006 (GRCm39)	V222M	probably benign	Het
Tnc	T	C	4: 63,926,066 (GRCm39)	T905A	possibly damaging	Het
Trim65	G	A	11: 116,018,435 (GRCm39)	Q253*	probably null	Het
Tuba3a	A	T	6: 125,258,506 (GRCm39)	Y161*	probably null	Het
Zfand2b	A	G	1: 75,147,330 (GRCm39)	S197G	possibly damaging	Het
Zfp109	T	A	7: 23,928,771 (GRCm39)	T213S	probably benign	Het
Zfp985	A	C	4: 147,668,368 (GRCm39)	D412A	probably benign	Het
Zswim3	T	A	2: 164,662,563 (GRCm39)	C348S	probably benign	Het

Other mutations in AI597479

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00737:AI597479	APN	1	43,140,018 (GRCm39)	missense	probably benign	0.00
R0329:AI597479	UTSW	1	43,150,277 (GRCm39)	missense	probably benign	0.00
R0330:AI597479	UTSW	1	43,150,277 (GRCm39)	missense	probably benign	0.00
R0799:AI597479	UTSW	1	43,150,330 (GRCm39)	missense	probably benign	0.00
R1463:AI597479	UTSW	1	43,152,389 (GRCm39)	missense	probably damaging	1.00
R1973:AI597479	UTSW	1	43,150,286 (GRCm39)	missense	probably benign	0.00
R2055:AI597479	UTSW	1	43,150,280 (GRCm39)	missense	probably benign	0.05
R2187:AI597479	UTSW	1	43,139,983 (GRCm39)	missense	probably damaging	1.00
R6593:AI597479	UTSW	1	43,150,408 (GRCm39)	missense	probably damaging	1.00
R7156:AI597479	UTSW	1	43,150,261 (GRCm39)	missense	probably damaging	0.98
R7536:AI597479	UTSW	1	43,150,505 (GRCm39)	missense	possibly damaging	0.92
R9375:AI597479	UTSW	1	43,150,505 (GRCm39)	missense	possibly damaging	0.70
Z1176:AI597479	UTSW	1	43,152,350 (GRCm39)	missense	probably benign	0.01
Z1177:AI597479	UTSW	1	43,150,279 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCATAACGCTTTCACCGTG -3'
(R):5'- AATCATAGTACCTGGTGCTCATCC -3'

Sequencing Primer
(F):5'- TCACCGTGTTACATGGCTAGGC -3'
(R):5'- TGGTGCTCATCCTCAGAGAC -3'

Posted On

2015-07-21