Mutagenetix > Incidental Mutation

Incidental Mutation 'R9385:4930435E12Rik'

710297

Institutional Source

Beutler Lab

Gene Symbol

4930435E12Rik

Ensembl Gene

ENSMUSG00000022798

Gene Name

RIKEN cDNA 4930435E12 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R9385 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

38812206-38828749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 38828045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 234 (D234A)

Ref Sequence

ENSEMBL: ENSMUSP00000113120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122078]

AlphaFold

A6X8Z9

Predicted Effect

probably benign
Transcript: ENSMUST00000122078
AA Change: D234A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113120
Gene: ENSMUSG00000022798
AA Change: D234A

Domain	Start	End	E-Value	Type
low complexity region	86	97	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
low complexity region	307	317	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,161,192 (GRCm38)	I554T	possibly damaging	Het
Adamts7	C	A	9: 90,195,205 (GRCm38)	C1308*	probably null	Het
Ank2	A	G	3: 126,959,717 (GRCm38)	V305A	probably benign	Het
Apob	A	G	12: 8,006,399 (GRCm38)	N1627S	possibly damaging	Het
Atp10a	A	T	7: 58,828,139 (GRCm38)	Q1310L	probably benign	Het
Atp8b4	A	T	2: 126,480,631 (GRCm38)	Y29*	probably null	Het
Card11	C	A	5: 140,885,521 (GRCm38)	R742S	probably benign	Het
Ccdc88a	A	G	11: 29,455,422 (GRCm38)	D365G	probably benign	Het
Ccdc88b	G	A	19: 6,856,165 (GRCm38)	R211W	probably benign	Het
Cda	T	G	4: 138,351,287 (GRCm38)	I55L	probably benign	Het
Cdkl3	A	C	11: 52,035,952 (GRCm38)	E577D	probably benign	Het
Cel	T	C	2: 28,560,575 (GRCm38)	D146G	probably damaging	Het
Cmya5	A	G	13: 93,094,372 (GRCm38)	S1403P	probably damaging	Het
Cntn2	G	A	1: 132,528,174 (GRCm38)	S202L	probably damaging	Het
Col15a1	C	T	4: 47,300,473 (GRCm38)	Q1045*	probably null	Het
Csmd1	T	C	8: 15,984,756 (GRCm38)	T2472A	probably benign	Het
Ctbp2	G	A	7: 132,999,340 (GRCm38)	R22C	probably benign	Het
Ddit4	A	G	10: 59,951,356 (GRCm38)	S53P	probably damaging	Het
Ddx52	G	T	11: 83,952,270 (GRCm38)	C365F	probably damaging	Het
Dnhd1	C	A	7: 105,712,765 (GRCm38)	L3677I	probably damaging	Het
Dscam	T	C	16: 97,039,003 (GRCm38)	T135A	probably benign	Het
Espl1	T	A	15: 102,298,750 (GRCm38)	D216E	probably damaging	Het
Fsip2	T	A	2: 82,989,449 (GRCm38)	D5175E	possibly damaging	Het
Fxr1	A	G	3: 34,019,971 (GRCm38)		probably benign	Het
Fyb	A	G	15: 6,634,816 (GRCm38)	D460G	probably benign	Het
Gm3264	T	C	14: 4,871,178 (GRCm38)	I8T	possibly damaging	Het
Gm35339	A	G	15: 76,356,167 (GRCm38)	T352A		Het
Gsdmc	A	T	15: 63,803,637 (GRCm38)	Y110N	possibly damaging	Het
H13	A	G	2: 152,695,493 (GRCm38)	N286S	probably benign	Het
Heatr1	A	G	13: 12,406,542 (GRCm38)	D441G	probably damaging	Het
Hist1h2aa	A	T	13: 23,934,696 (GRCm38)	I79F	probably damaging	Het
Hps6	A	G	19: 46,005,910 (GRCm38)	D762G	probably damaging	Het
Hyou1	C	A	9: 44,381,515 (GRCm38)	Q141K	probably benign	Het
Lpin3	T	C	2: 160,897,073 (GRCm38)	I267T	probably benign	Het
Mdc1	A	G	17: 35,850,504 (GRCm38)	K770E	probably benign	Het
Mlh3	C	T	12: 85,269,370 (GRCm38)	R14H	probably damaging	Het
Nfxl1	C	A	5: 72,537,407 (GRCm38)	V478F	probably benign	Het
Nhlrc3	A	G	3: 53,453,594 (GRCm38)	W247R	probably damaging	Het
Nlrc3	C	T	16: 3,964,012 (GRCm38)	G527D	probably damaging	Het
Nop9	A	G	14: 55,751,127 (GRCm38)	E342G	probably benign	Het
Ntn1	C	A	11: 68,385,187 (GRCm38)	G312C	probably damaging	Het
Olfr288	C	T	15: 98,187,605 (GRCm38)	S64N	probably damaging	Het
Olfr474	T	A	7: 107,955,573 (GRCm38)	*311K	probably null	Het
Opcml	T	C	9: 28,675,163 (GRCm38)	V59A	possibly damaging	Het
Opn1sw	T	G	6: 29,379,426 (GRCm38)	Y193S	probably damaging	Het
Pabpc4l	A	T	3: 46,446,702 (GRCm38)	V169E	probably damaging	Het
Pde3a	A	G	6: 141,492,256 (GRCm38)	D1017G	probably benign	Het
Plagl2	C	T	2: 153,232,318 (GRCm38)	C221Y	probably damaging	Het
Plppr4	G	T	3: 117,322,728 (GRCm38)	N493K	possibly damaging	Het
Plxna2	T	C	1: 194,749,416 (GRCm38)	V571A	possibly damaging	Het
Pnma2	A	G	14: 66,915,922 (GRCm38)		probably benign	Het
Rnf123	T	A	9: 108,052,268 (GRCm38)	E1234D	probably benign	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,153,382 (GRCm38)		probably benign	Het
Slc22a23	T	C	13: 34,344,578 (GRCm38)	S74G	probably benign	Het
Slc36a4	T	C	9: 15,734,267 (GRCm38)	I330T	probably damaging	Het
Snrk	A	T	9: 122,166,397 (GRCm38)	D414V	probably benign	Het
Snrnp200	G	A	2: 127,238,058 (GRCm38)		probably null	Het
Spata31d1b	T	C	13: 59,715,589 (GRCm38)	S184P	probably damaging	Het
Tas2r140	A	T	6: 133,055,278 (GRCm38)	N172K	probably benign	Het
Tbc1d4	G	T	14: 101,462,920 (GRCm38)	Q858K	probably damaging	Het
Tial1	A	G	7: 128,442,485 (GRCm38)	C102R	unknown	Het
Ugt8a	A	T	3: 125,871,614 (GRCm38)	D411E	probably benign	Het
Usp34	A	G	11: 23,449,223 (GRCm38)	D2404G		Het
Vmn1r10	A	C	6: 57,113,848 (GRCm38)	I142L	probably benign	Het
Wdr66	T	C	5: 123,288,815 (GRCm38)	L919S	probably damaging	Het
Xpo7	A	T	14: 70,688,293 (GRCm38)	D435E	probably damaging	Het
Zmym1	A	G	4: 127,058,890 (GRCm38)	S33P	probably damaging	Het

Other mutations in 4930435E12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:4930435E12Rik	APN	16	38,827,893 (GRCm38)	missense	possibly damaging	0.61
IGL01998:4930435E12Rik	APN	16	38,828,224 (GRCm38)	missense	probably benign	0.00
IGL02454:4930435E12Rik	APN	16	38,827,947 (GRCm38)	missense	probably benign	0.02
IGL03216:4930435E12Rik	APN	16	38,828,690 (GRCm38)	missense	possibly damaging	0.59
IGL03325:4930435E12Rik	APN	16	38,827,993 (GRCm38)	missense	probably damaging	1.00
IGL03397:4930435E12Rik	APN	16	38,828,693 (GRCm38)	missense	probably damaging	1.00
R7924_4930435E12Rik_239	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
BB001:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
BB011:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
R0242:4930435E12Rik	UTSW	16	38,824,567 (GRCm38)	splice site	probably benign
R0446:4930435E12Rik	UTSW	16	38,828,702 (GRCm38)	missense	probably benign	0.01
R0607:4930435E12Rik	UTSW	16	38,828,364 (GRCm38)	missense	probably benign	0.02
R1918:4930435E12Rik	UTSW	16	38,828,088 (GRCm38)	missense	possibly damaging	0.56
R1953:4930435E12Rik	UTSW	16	38,827,913 (GRCm38)	missense	possibly damaging	0.78
R3417:4930435E12Rik	UTSW	16	38,828,740 (GRCm38)	missense	probably benign	0.17
R4601:4930435E12Rik	UTSW	16	38,828,018 (GRCm38)	missense	probably benign	0.14
R4860:4930435E12Rik	UTSW	16	38,828,145 (GRCm38)	missense	probably damaging	0.97
R4860:4930435E12Rik	UTSW	16	38,828,145 (GRCm38)	missense	probably damaging	0.97
R5551:4930435E12Rik	UTSW	16	38,827,974 (GRCm38)	missense	probably benign	0.28
R7568:4930435E12Rik	UTSW	16	38,828,447 (GRCm38)	missense	possibly damaging	0.95
R7623:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7643:4930435E12Rik	UTSW	16	38,827,863 (GRCm38)	missense	probably benign	0.15
R7669:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7670:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7671:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7924:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
RF013:4930435E12Rik	UTSW	16	38,828,001 (GRCm38)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CATCCCTTTGACCTACAGAAGTG -3'
(R):5'- GGACTGAAGACTCTAGTGATCCAC -3'

Sequencing Primer
(F):5'- CCTTTGACCTACAGAAGTGTATTC -3'
(R):5'- TGATCCACACAGGCTTAGTG -3'

Posted On

2022-04-18