Mutagenetix > Incidental Mutation

Incidental Mutation 'R4111:Impact'

317339

Institutional Source

Beutler Lab

Gene Symbol

Impact

Ensembl Gene

ENSMUSG00000024423

Gene Name

impact, RWD domain protein

Synonyms

E430016J11Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.471) question?

Stock #

R4111 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13088909-13126007 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 13109090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025290] [ENSMUST00000025290] [ENSMUST00000025290]

AlphaFold

O55091

Predicted Effect

probably null
Transcript: ENSMUST00000025290

SMART Domains

Protein: ENSMUSP00000025290
Gene: ENSMUSG00000024423

Domain	Start	End	E-Value	Type
RWD	14	116	7.86e-29	SMART
low complexity region	126	139	N/A	INTRINSIC
low complexity region	160	171	N/A	INTRINSIC
Pfam:UPF0029	180	288	8.5e-36	PFAM
low complexity region	306	315	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000025290

SMART Domains

Protein: ENSMUSP00000025290
Gene: ENSMUSG00000024423

Domain	Start	End	E-Value	Type
RWD	14	116	7.86e-29	SMART
low complexity region	126	139	N/A	INTRINSIC
low complexity region	160	171	N/A	INTRINSIC
Pfam:UPF0029	180	288	8.5e-36	PFAM
low complexity region	306	315	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000025290

SMART Domains

Protein: ENSMUSP00000025290
Gene: ENSMUSG00000024423

Domain	Start	End	E-Value	Type
RWD	14	116	7.86e-29	SMART
low complexity region	126	139	N/A	INTRINSIC
low complexity region	160	171	N/A	INTRINSIC
Pfam:UPF0029	180	288	8.5e-36	PFAM
low complexity region	306	315	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Acot10	A	T	15: 20,666,612 (GRCm39)	L43Q	probably damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Ambra1	T	C	2: 91,730,903 (GRCm39)	S894P	probably damaging	Het
Arhgef12	C	A	9: 42,883,570 (GRCm39)	G1320C	probably damaging	Het
Atg7	G	C	6: 114,690,255 (GRCm39)	G596R	probably damaging	Het
Birc6	T	C	17: 74,873,010 (GRCm39)	V423A	probably damaging	Het
Bltp3a	T	A	17: 28,105,064 (GRCm39)	L586*	probably null	Het
Cdh17	T	C	4: 11,814,628 (GRCm39)	S728P	probably damaging	Het
Ctu2	G	A	8: 123,203,256 (GRCm39)	R24Q	possibly damaging	Het
Dclk3	T	C	9: 111,298,148 (GRCm39)	I564T	probably damaging	Het
Ddx39b	T	A	17: 35,462,340 (GRCm39)	I42N	possibly damaging	Het
Defa39	T	C	8: 22,192,679 (GRCm39)	T106A	possibly damaging	Het
Dip2c	G	T	13: 9,687,137 (GRCm39)	G1254C	probably damaging	Het
Dzip1	T	A	14: 119,114,645 (GRCm39)	K837*	probably null	Het
Epha1	G	A	6: 42,335,772 (GRCm39)	T955M	possibly damaging	Het
Etfbkmt	T	C	6: 149,046,089 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,098 (GRCm39)	Y23H	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm5611	T	A	9: 16,941,989 (GRCm39)		noncoding transcript	Het
Gpr37l1	T	C	1: 135,095,008 (GRCm39)	T79A	possibly damaging	Het
Hrh3	C	A	2: 179,744,643 (GRCm39)	R99L	possibly damaging	Het
Hyls1	T	A	9: 35,472,714 (GRCm39)	Y234F	probably damaging	Het
Ifnar1	C	A	16: 91,293,046 (GRCm39)	P230T	probably damaging	Het
Kcna6	G	C	6: 126,716,737 (GRCm39)	R51G	probably damaging	Het
Lrpprc	G	A	17: 85,033,766 (GRCm39)	T1037M	probably benign	Het
Or10g9	C	A	9: 39,912,194 (GRCm39)	E110*	probably null	Het
Or4a2	C	A	2: 89,248,444 (GRCm39)	L104F	probably benign	Het
Or5an6	T	C	19: 12,371,665 (GRCm39)	F13L	probably damaging	Het
Or6n2	T	A	1: 173,896,999 (GRCm39)	I45N	probably damaging	Het
Pask	A	G	1: 93,238,540 (GRCm39)	V1315A	probably damaging	Het
Pramel16	T	A	4: 143,676,475 (GRCm39)	I210F	possibly damaging	Het
Prl7a2	A	T	13: 27,849,050 (GRCm39)	Y80N	possibly damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Rtn2	T	C	7: 19,020,769 (GRCm39)	S81P	probably damaging	Het
Sbf2	G	A	7: 110,027,449 (GRCm39)	P470S	probably damaging	Het
Sec31b	G	T	19: 44,512,968 (GRCm39)	T507N	possibly damaging	Het
Sox30	A	G	11: 45,908,041 (GRCm39)	Y736C	probably benign	Het
Srsf3-ps	A	T	11: 98,516,223 (GRCm39)	V50D	probably damaging	Het
Synj2	G	A	17: 6,058,240 (GRCm39)	G243S	probably benign	Het
Tbr1	C	T	2: 61,642,076 (GRCm39)	P184L	probably benign	Het
Tns1	T	C	1: 73,981,091 (GRCm39)	N1091S	probably damaging	Het
Trappc10	A	G	10: 78,032,264 (GRCm39)	F1008S	probably benign	Het
Ube4a	T	A	9: 44,860,247 (GRCm39)	I272F	probably damaging	Het
Vmn1r122	A	T	7: 20,867,438 (GRCm39)	S206T	probably damaging	Het
Vmn2r1	A	C	3: 63,997,176 (GRCm39)	K277N	probably benign	Het
Vps13a	T	C	19: 16,617,992 (GRCm39)	E2931G	probably damaging	Het
Wdr70	G	T	15: 8,006,472 (GRCm39)	Q360K	probably benign	Het
Wdr90	G	T	17: 26,068,342 (GRCm39)	Q1329K	possibly damaging	Het
Wrn	T	C	8: 33,842,183 (GRCm39)	N37S	probably benign	Het
Yap1	A	T	9: 7,938,432 (GRCm39)	*358K	probably null	Het
Zfp964	T	A	8: 70,116,754 (GRCm39)	S450R	probably benign	Het
Zkscan2	T	C	7: 123,081,907 (GRCm39)		probably benign	Het
Zmynd10	A	T	9: 107,426,251 (GRCm39)	K133*	probably null	Het

Other mutations in Impact

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Impact	APN	18	13,109,076 (GRCm39)	missense	probably benign	0.00
IGL01960:Impact	APN	18	13,107,815 (GRCm39)	missense	probably benign	0.13
R1056:Impact	UTSW	18	13,109,581 (GRCm39)	missense	probably benign	0.14
R1552:Impact	UTSW	18	13,117,337 (GRCm39)	missense	probably benign	0.25
R4734:Impact	UTSW	18	13,118,346 (GRCm39)	missense	probably damaging	1.00
R4885:Impact	UTSW	18	13,119,430 (GRCm39)	missense	probably damaging	1.00
R5566:Impact	UTSW	18	13,107,819 (GRCm39)	missense	probably damaging	0.98
R5601:Impact	UTSW	18	13,109,064 (GRCm39)	missense	probably benign	0.44
R5966:Impact	UTSW	18	13,123,601 (GRCm39)	missense	probably benign	0.00
R6974:Impact	UTSW	18	13,115,169 (GRCm39)	missense	probably damaging	1.00
R7168:Impact	UTSW	18	13,119,370 (GRCm39)	splice site	probably null
R8108:Impact	UTSW	18	13,117,388 (GRCm39)	missense	probably benign	0.00
R8460:Impact	UTSW	18	13,109,564 (GRCm39)	missense	probably benign	0.00
R8474:Impact	UTSW	18	13,107,798 (GRCm39)	missense	probably damaging	1.00
R8897:Impact	UTSW	18	13,123,551 (GRCm39)	missense	probably benign	0.10
Z1177:Impact	UTSW	18	13,121,423 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGAAACATGACAGCTTCTTTAAC -3'
(R):5'- TGCTCTACACCAATGTAAAAGATGC -3'

Sequencing Primer
(F):5'- GTTAGAACCCTGTTCATTGC -3'
(R):5'- TCAGCAGTTAAGAGCACTAACTG -3'

Posted On

2015-05-15