Mutagenetix > Incidental Mutation

Incidental Mutation 'R6913:Gm4070'

539169

Institutional Source

Beutler Lab

Gene Symbol

Gm4070

Ensembl Gene

ENSMUSG00000078606

Gene Name

predicted gene 4070

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R6913 (G1)

Quality Score

138.008

Status

Not validated

Chromosome

Chromosomal Location

105895139-105953967 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 105901980 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 622 (Q622*)

Ref Sequence

ENSEMBL: ENSMUSP00000135898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106766] [ENSMUST00000176467] [ENSMUST00000176994]

AlphaFold

Q80SU7

Predicted Effect

probably null
Transcript: ENSMUST00000106766
AA Change: Q622*

SMART Domains

Protein: ENSMUSP00000102377
Gene: ENSMUSG00000078606
AA Change: Q622*

Domain	Start	End	E-Value	Type
low complexity region	104	116	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
Blast:PGAM	860	1554	7e-61	BLAST
coiled coil region	1625	1656	N/A	INTRINSIC
low complexity region	1769	1781	N/A	INTRINSIC
coiled coil region	1851	1877	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176467
AA Change: Q622*

SMART Domains

Protein: ENSMUSP00000135898
Gene: ENSMUSG00000078606
AA Change: Q622*

Domain	Start	End	E-Value	Type
low complexity region	104	116	N/A	INTRINSIC
low complexity region	122	135	N/A	INTRINSIC
Blast:PGAM	860	1554	7e-61	BLAST
coiled coil region	1625	1656	N/A	INTRINSIC
low complexity region	1769	1781	N/A	INTRINSIC
coiled coil region	1851	1877	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176994

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.9%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	T	16: 20,378,744	I619N	possibly damaging	Het
Accsl	T	C	2: 93,866,143	K41E	possibly damaging	Het
Actr6	T	C	10: 89,726,696	E107G	probably damaging	Het
Adam7	T	A	14: 68,533,651	M9L	probably benign	Het
Adamts12	T	A	15: 11,215,692	H266Q	probably damaging	Het
Adamts16	A	G	13: 70,728,898	F1208S	possibly damaging	Het
Ankrd11	T	C	8: 122,894,911	D734G	probably benign	Het
Ap1b1	T	C	11: 5,012,972	V43A	possibly damaging	Het
Asnsd1	A	G	1: 53,348,231	V79A	probably damaging	Het
Aste1	T	A	9: 105,397,408	S221R	probably benign	Het
Ccndbp1	G	A	2: 121,009,866	E94K	probably benign	Het
Cdc34	G	A	10: 79,685,103		probably null	Het
Cdh16	T	C	8: 104,622,264	D67G	probably benign	Het
Chd8	T	C	14: 52,214,494	E1348G	probably damaging	Het
Chl1	C	T	6: 103,665,948	Q216*	probably null	Het
Cse1l	G	A	2: 166,929,877	V353I	possibly damaging	Het
Ctbp2	G	A	7: 133,014,726	S160F	possibly damaging	Het
Cyp1a1	C	A	9: 57,700,293	T68K	probably damaging	Het
Dlgap2	T	A	8: 14,778,374	M594K	probably benign	Het
Dnah6	C	T	6: 73,212,522	E48K	probably benign	Het
Dock2	A	G	11: 34,756,222	V35A	probably damaging	Het
E330009J07Rik	T	C	6: 40,406,917	N397S	possibly damaging	Het
Edem2	A	T	2: 155,726,674	S73R	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Frem2	T	C	3: 53,516,821	N3065S	probably damaging	Het
Gal3st4	A	T	5: 138,270,828	S123R	possibly damaging	Het
Garnl3	T	A	2: 32,986,829	I937F	possibly damaging	Het
Gfod2	C	T	8: 105,717,363	V183M	possibly damaging	Het
Glipr1l1	T	C	10: 112,062,434		probably null	Het
Gm7145	T	G	1: 117,985,981	C198G	probably damaging	Het
Gm906	G	T	13: 50,245,257	P1011H	probably damaging	Het
H2-Eb2	G	A	17: 34,333,549	A123T	possibly damaging	Het
Ighv1-55	T	C	12: 115,208,509	I7V	probably benign	Het
Itpripl2	G	T	7: 118,491,109	P76T	possibly damaging	Het
Kat6a	C	A	8: 22,903,199	A231E	possibly damaging	Het
Lipo1	C	T	19: 33,780,305	V255I	probably benign	Het
Mamstr	A	T	7: 45,643,238	M141L	probably benign	Het
Med13	A	G	11: 86,319,876	V480A	probably benign	Het
Mei1	A	G	15: 82,089,609	N523S	probably benign	Het
Mill2	A	G	7: 18,856,426	T144A	probably null	Het
Muc16	C	A	9: 18,642,663	L4111F	unknown	Het
Mylk2	G	A	2: 152,913,690	G258E	possibly damaging	Het
Myom2	T	G	8: 15,065,710	S42A	probably benign	Het
Nab1	C	A	1: 52,464,836	G401C	possibly damaging	Het
Nifk	T	C	1: 118,332,862	V244A	possibly damaging	Het
Nipsnap2	C	A	5: 129,753,293	Q224K	probably benign	Het
Nop16	T	G	13: 54,589,740	K47Q	probably damaging	Het
Nup153	A	T	13: 46,699,716	S548R	probably damaging	Het
Olfr1284	A	G	2: 111,379,002	M1V	probably null	Het
Olfr1465	A	G	19: 13,313,634	I217T	probably benign	Het
Olfr521	A	C	7: 99,767,717	D185A	probably damaging	Het
Pard6g	G	A	18: 80,117,319	V216I	possibly damaging	Het
Pcdh20	C	T	14: 88,468,602	V421I	probably benign	Het
Pcif1	G	A	2: 164,884,304		probably null	Het
Pde11a	C	A	2: 76,337,740	V290F	probably damaging	Het
Pisd	T	C	5: 32,737,429	Y511C	probably damaging	Het
Polg	A	T	7: 79,460,657	D276E	probably damaging	Het
Polr3b	T	C	10: 84,713,632	V906A	probably damaging	Het
Prkcg	C	T	7: 3,313,819	P270S	probably benign	Het
Rapgef2	T	A	3: 79,085,974	I884F	probably damaging	Het
Rpl13	C	A	8: 123,103,275	N113K	possibly damaging	Het
Rxra	T	A	2: 27,741,174	I139N	probably damaging	Het
Sf3b5	T	A	10: 13,008,743	C41S	probably benign	Het
Stk24	C	T	14: 121,302,809	R126Q	probably damaging	Het
Taar8b	T	C	10: 24,092,065	D77G	possibly damaging	Het
Tbc1d1	T	A	5: 64,311,109	C566S	probably benign	Het
Tenm3	A	T	8: 48,298,937	M948K	probably damaging	Het
Thbs4	T	A	13: 92,757,936	Q693L	possibly damaging	Het
Tnfrsf26	A	T	7: 143,618,389	C61*	probably null	Het
Trp63	A	G	16: 25,889,168	E636G	probably damaging	Het
Try5	T	C	6: 41,311,332	Y121C	probably damaging	Het
Ttn	G	T	2: 76,830,411		probably benign	Het
Vamp1	T	A	6: 125,218,945	V55D	probably damaging	Het
Vmn2r117	T	C	17: 23,479,563	N12S	probably damaging	Het
Vmn2r90	G	A	17: 17,704,061	G41S	probably damaging	Het
Zfp462	T	A	4: 55,007,775	D71E	probably benign	Het

Other mutations in Gm4070

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Gm4070	APN	7	105896802	missense	possibly damaging	0.52
IGL02657:Gm4070	APN	7	105896765	missense	probably damaging	1.00
R0755:Gm4070	UTSW	7	105896685	missense	possibly damaging	0.81
R6914:Gm4070	UTSW	7	105901980	nonsense	probably null
R6921:Gm4070	UTSW	7	105901980	nonsense	probably null
R6941:Gm4070	UTSW	7	105901980	nonsense	probably null
R6943:Gm4070	UTSW	7	105901980	nonsense	probably null
R6944:Gm4070	UTSW	7	105901980	nonsense	probably null
R6945:Gm4070	UTSW	7	105901980	nonsense	probably null
R7208:Gm4070	UTSW	7	105902179	missense	possibly damaging	0.58
R7400:Gm4070	UTSW	7	105902040	missense	probably benign
R8477:Gm4070	UTSW	7	105898926	missense	possibly damaging	0.66
R8493:Gm4070	UTSW	7	105898881	missense	probably benign	0.09
R8880:Gm4070	UTSW	7	105901913	missense	probably benign	0.00
R9176:Gm4070	UTSW	7	105902055	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGCTGCATGTCTGGCTGTTC -3'
(R):5'- GGATTAATACATGTCTCACTGATTGGG -3'

Sequencing Primer
(F):5'- TCTTTGAGGTACTTCAAGAAGGAG -3'
(R):5'- ACATGTCTCACTGATTGGGATCTGC -3'

Posted On

2018-11-06