Mutagenetix > Incidental Mutation

Incidental Mutation 'R9418:A430033K04Rik'

712162

Institutional Source

Beutler Lab

Gene Symbol

A430033K04Rik

Ensembl Gene

ENSMUSG00000056014

Gene Name

RIKEN cDNA A430033K04 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R9418 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138621121-138647179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138645317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 401 (G401R)

Ref Sequence

ENSEMBL: ENSMUSP00000067316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069862] [ENSMUST00000198958]

AlphaFold

E9Q8G5

Predicted Effect

probably damaging
Transcript: ENSMUST00000069862
AA Change: G401R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: G401R

Domain	Start	End	E-Value	Type
KRAB	16	76	6.23e-34	SMART
ZnF_C2H2	261	280	1.01e2	SMART
ZnF_C2H2	455	477	1.47e-3	SMART
ZnF_C2H2	483	505	4.05e-1	SMART
ZnF_C2H2	511	533	5.5e-3	SMART
ZnF_C2H2	539	561	7.26e-3	SMART
ZnF_C2H2	567	589	5.14e-3	SMART
ZnF_C2H2	595	617	3.63e-3	SMART
ZnF_C2H2	623	645	1.92e-2	SMART
ZnF_C2H2	651	673	2.12e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198958
AA Change: G401R

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: G401R

Domain	Start	End	E-Value	Type
KRAB	16	76	2.7e-36	SMART
ZnF_C2H2	261	280	4.2e-1	SMART
ZnF_C2H2	455	477	6.4e-6	SMART
ZnF_C2H2	483	505	1.8e-3	SMART
ZnF_C2H2	511	533	2.3e-5	SMART
ZnF_C2H2	539	561	3e-5	SMART
ZnF_C2H2	567	589	2.1e-5	SMART
ZnF_C2H2	595	617	1.5e-5	SMART
ZnF_C2H2	623	643	2.7e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	G	A	17: 43,737,864 (GRCm39)	V233I	probably benign	Het
Ankrd34b	A	G	13: 92,575,232 (GRCm39)	K155E	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc141	A	T	2: 76,871,766 (GRCm39)	H839Q	probably benign	Het
Ccdc18	T	C	5: 108,303,669 (GRCm39)	L251P	probably damaging	Het
Ciita	G	T	16: 10,319,765 (GRCm39)	E63*	probably null	Het
Cmya5	T	C	13: 93,226,209 (GRCm39)	T2960A	probably benign	Het
Cyp2b13	A	T	7: 25,761,110 (GRCm39)	I56F	probably benign	Het
Dcaf4	A	T	12: 83,586,606 (GRCm39)	Y422F	probably benign	Het
Dhrs7b	A	T	11: 60,746,594 (GRCm39)	I228F	probably damaging	Het
Drosha	T	C	15: 12,885,167 (GRCm39)	S853P	probably benign	Het
Dzank1	C	T	2: 144,355,408 (GRCm39)	V96M	probably damaging	Het
Fap	G	A	2: 62,385,181 (GRCm39)	Q65*	probably null	Het
Fbxo47	T	A	11: 97,747,067 (GRCm39)	N333I	possibly damaging	Het
Fem1al	C	T	11: 29,774,632 (GRCm39)	C275Y	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gpr171	T	C	3: 59,004,999 (GRCm39)	T259A	possibly damaging	Het
Hectd2	T	A	19: 36,589,574 (GRCm39)	S595T	probably benign	Het
Hexa	A	G	9: 59,464,592 (GRCm39)	I161V	probably benign	Het
Hira	A	G	16: 18,770,025 (GRCm39)	T777A	probably benign	Het
Il2ra	T	C	2: 11,689,203 (GRCm39)	F244S	possibly damaging	Het
Kcne3	A	G	7: 99,833,385 (GRCm39)	M1V	probably null	Het
Kcnj1	G	A	9: 32,308,203 (GRCm39)	C209Y	probably damaging	Het
Kcnj2	A	T	11: 110,963,357 (GRCm39)	I250F	probably damaging	Het
Krt26	C	T	11: 99,228,741 (GRCm39)		probably benign	Het
Leng9	T	C	7: 4,151,354 (GRCm39)	T441A	probably benign	Het
Lingo2	T	C	4: 35,709,035 (GRCm39)	H315R	probably benign	Het
Lrrc7	A	T	3: 157,908,023 (GRCm39)	S266T	possibly damaging	Het
Mab21l4	A	C	1: 93,087,710 (GRCm39)	L48V	probably benign	Het
Mib1	A	G	18: 10,812,064 (GRCm39)	D987G	probably damaging	Het
Mrc1	T	C	2: 14,234,358 (GRCm39)	V12A	probably benign	Het
Mta1	G	T	12: 113,094,987 (GRCm39)	R415L	probably damaging	Het
Mug2	T	A	6: 122,017,700 (GRCm39)	V479E	probably benign	Het
Mylk3	C	A	8: 86,091,444 (GRCm39)	M120I	possibly damaging	Het
Or13c7c	C	T	4: 43,835,879 (GRCm39)	V204M	probably benign	Het
Or2v2	G	T	11: 49,004,484 (GRCm39)	P23Q	probably benign	Het
Otog	A	T	7: 45,938,024 (GRCm39)	Q1911L	probably benign	Het
Pcdh20	C	T	14: 88,705,455 (GRCm39)	C615Y	probably benign	Het
Pde1b	A	G	15: 103,433,464 (GRCm39)	H294R	probably damaging	Het
Phldb3	A	T	7: 24,328,354 (GRCm39)	I633F	probably damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Pip5k1b	A	G	19: 24,327,581 (GRCm39)	V425A	probably benign	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Rab23	A	T	1: 33,777,424 (GRCm39)	E179D	probably benign	Het
Slc12a6	C	A	2: 112,174,555 (GRCm39)	L522I		Het
Slc22a19	A	T	19: 7,660,210 (GRCm39)	M400K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spsb2	C	A	6: 124,786,282 (GRCm39)	A5D	probably damaging	Het
Tgfb1	A	G	7: 25,391,952 (GRCm39)	E169G	probably damaging	Het
Tm4sf5	T	A	11: 70,401,134 (GRCm39)	C117S	probably damaging	Het
Tmcc3	T	C	10: 94,415,087 (GRCm39)	L294P	possibly damaging	Het
Ubc	T	C	5: 125,464,466 (GRCm39)	Y287C	probably damaging	Het
Uroc1	G	T	6: 90,313,880 (GRCm39)	V56F	probably benign	Het
Ush1c	A	T	7: 45,872,292 (GRCm39)	F237I	probably damaging	Het
Xxylt1	A	T	16: 30,826,624 (GRCm39)	Y230*	probably null	Het
Zfp467	A	T	6: 48,415,990 (GRCm39)	C221S	probably damaging	Het

Other mutations in A430033K04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:A430033K04Rik	APN	5	138,645,854 (GRCm39)	missense	probably damaging	1.00
IGL00336:A430033K04Rik	APN	5	138,645,366 (GRCm39)	missense	probably damaging	0.99
IGL02615:A430033K04Rik	APN	5	138,644,402 (GRCm39)	nonsense	probably null
IGL03354:A430033K04Rik	APN	5	138,645,041 (GRCm39)	missense	possibly damaging	0.85
R0172:A430033K04Rik	UTSW	5	138,645,578 (GRCm39)	missense	probably damaging	0.99
R1769:A430033K04Rik	UTSW	5	138,644,519 (GRCm39)	missense	probably benign	0.04
R4515:A430033K04Rik	UTSW	5	138,646,006 (GRCm39)	missense	probably damaging	1.00
R4903:A430033K04Rik	UTSW	5	138,645,119 (GRCm39)	nonsense	probably null
R4964:A430033K04Rik	UTSW	5	138,645,119 (GRCm39)	nonsense	probably null
R5389:A430033K04Rik	UTSW	5	138,644,559 (GRCm39)	missense	probably benign	0.02
R5769:A430033K04Rik	UTSW	5	138,644,595 (GRCm39)	missense	possibly damaging	0.86
R6128:A430033K04Rik	UTSW	5	138,646,038 (GRCm39)	missense	probably damaging	1.00
R6399:A430033K04Rik	UTSW	5	138,645,821 (GRCm39)	missense	probably damaging	1.00
R6444:A430033K04Rik	UTSW	5	138,637,831 (GRCm39)	small deletion	probably benign
R6600:A430033K04Rik	UTSW	5	138,645,710 (GRCm39)	frame shift	probably null
R6774:A430033K04Rik	UTSW	5	138,644,712 (GRCm39)	missense	probably benign
R7098:A430033K04Rik	UTSW	5	138,644,784 (GRCm39)	missense	probably benign
R7217:A430033K04Rik	UTSW	5	138,645,188 (GRCm39)	missense	probably benign
R7269:A430033K04Rik	UTSW	5	138,645,014 (GRCm39)	missense	possibly damaging	0.86
R7429:A430033K04Rik	UTSW	5	138,634,445 (GRCm39)	missense	possibly damaging	0.92
R7442:A430033K04Rik	UTSW	5	138,645,509 (GRCm39)	missense	possibly damaging	0.55
R7718:A430033K04Rik	UTSW	5	138,646,122 (GRCm39)	missense	possibly damaging	0.73
R8007:A430033K04Rik	UTSW	5	138,644,901 (GRCm39)	missense	probably benign	0.33
R8170:A430033K04Rik	UTSW	5	138,645,315 (GRCm39)	missense	possibly damaging	0.72
R8348:A430033K04Rik	UTSW	5	138,634,514 (GRCm39)	missense	probably damaging	1.00
R8496:A430033K04Rik	UTSW	5	138,645,120 (GRCm39)	missense	probably benign	0.00
R8520:A430033K04Rik	UTSW	5	138,644,968 (GRCm39)	missense	possibly damaging	0.72
R8778:A430033K04Rik	UTSW	5	138,645,149 (GRCm39)	missense	possibly damaging	0.53
R8858:A430033K04Rik	UTSW	5	138,638,338 (GRCm39)	missense	probably benign	0.01
R9147:A430033K04Rik	UTSW	5	138,644,547 (GRCm39)	missense	possibly damaging	0.86
R9148:A430033K04Rik	UTSW	5	138,644,547 (GRCm39)	missense	possibly damaging	0.86
R9645:A430033K04Rik	UTSW	5	138,644,793 (GRCm39)	missense	probably benign	0.33
R9661:A430033K04Rik	UTSW	5	138,645,451 (GRCm39)	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TGATCCAGAACTTCACGGAGAG -3'
(R):5'- GCTGTGACCTCAGGTAGAAAG -3'

Sequencing Primer
(F):5'- CTTCACGGAGAGAAACAAGTTTAC -3'
(R):5'- ACTTGTGACAGAAGGCTTTCC -3'

Posted On

2022-05-16