Mutagenetix > Incidental Mutation

Incidental Mutation 'R8146:4921504E06Rik'

632793

Institutional Source

Beutler Lab

Gene Symbol

4921504E06Rik

Ensembl Gene

ENSMUSG00000026734

Gene Name

RIKEN cDNA 4921504E06 gene

Synonyms

MMRRC Submission

067574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R8146 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19467648-19558721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 19498814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 393 (E393A)

Ref Sequence

ENSEMBL: ENSMUSP00000058720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062060]

AlphaFold

Q8CET2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062060
AA Change: E393A

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058720
Gene: ENSMUSG00000026734
AA Change: E393A

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:DUF4709	36	145	1e-45	PFAM
coiled coil region	165	257	N/A	INTRINSIC
low complexity region	366	386	N/A	INTRINSIC
coiled coil region	417	463	N/A	INTRINSIC
Pfam:DUF4724	477	559	3.9e-24	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,334,270 (GRCm39)	D171G	probably damaging	Het
Abca13	T	C	11: 9,347,829 (GRCm39)	Y3561H	probably damaging	Het
Adgra2	T	A	8: 27,604,202 (GRCm39)	V464D	probably damaging	Het
Adgrl1	C	A	8: 84,657,618 (GRCm39)	T408N	possibly damaging	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Anks6	C	A	4: 47,043,605 (GRCm39)	A375S	unknown	Het
Bbs10	T	A	10: 111,136,396 (GRCm39)	I503K	probably benign	Het
Birc2	A	G	9: 7,818,797 (GRCm39)	I598T	probably damaging	Het
Cbl	A	T	9: 44,076,171 (GRCm39)	D339E	probably damaging	Het
Cdh4	C	A	2: 179,515,871 (GRCm39)	Q350K	possibly damaging	Het
Cep78	A	G	19: 15,933,727 (GRCm39)	L617P	probably damaging	Het
Cnbd2	T	G	2: 156,170,281 (GRCm39)	V122G	probably damaging	Het
Crem	A	T	18: 3,288,007 (GRCm39)	N158K	possibly damaging	Het
Cul1	T	C	6: 47,472,027 (GRCm39)	V56A	possibly damaging	Het
Dop1b	T	A	16: 93,546,827 (GRCm39)	I277N	possibly damaging	Het
Exoc3	T	C	13: 74,340,784 (GRCm39)	D340G	probably benign	Het
Exoc6b	A	C	6: 84,885,176 (GRCm39)	D254E	probably benign	Het
Fyttd1	A	G	16: 32,722,862 (GRCm39)	K268E	probably damaging	Het
Gbp8	T	A	5: 105,178,844 (GRCm39)	N157I	probably benign	Het
Hacd1	T	A	2: 14,049,605 (GRCm39)	S118C	probably damaging	Het
Hcn4	A	C	9: 58,731,027 (GRCm39)	E78A	unknown	Het
Inpp5e	T	A	2: 26,289,274 (GRCm39)	T549S	probably benign	Het
Kcnh4	T	C	11: 100,646,105 (GRCm39)	N281S	probably damaging	Het
Kdm5b	A	G	1: 134,552,864 (GRCm39)	D1280G	probably benign	Het
Lrfn3	A	G	7: 30,059,304 (GRCm39)	V307A	probably benign	Het
Mafb	A	G	2: 160,208,298 (GRCm39)	L100P	probably damaging	Het
Med24	C	T	11: 98,608,940 (GRCm39)	G119R	probably benign	Het
Mvp	G	T	7: 126,586,171 (GRCm39)	P866Q	probably benign	Het
Or51l4	A	G	7: 103,404,510 (GRCm39)	I94T	probably damaging	Het
Phykpl	T	C	11: 51,476,408 (GRCm39)	Y43H	probably damaging	Het
Prag1	T	G	8: 36,571,364 (GRCm39)	L649R	probably damaging	Het
Ptgdr2	T	C	19: 10,918,361 (GRCm39)	F293L	probably damaging	Het
Rasip1	T	G	7: 45,279,704 (GRCm39)	S316A	possibly damaging	Het
Rlf	G	A	4: 121,004,429 (GRCm39)	S1627L	probably benign	Het
Rtl1	T	C	12: 109,557,145 (GRCm39)	R1565G	probably benign	Het
Sart3	G	A	5: 113,886,018 (GRCm39)	T572M	probably damaging	Het
Sec24b	G	T	3: 129,789,573 (GRCm39)	S816*	probably null	Het
Slamf1	C	T	1: 171,619,887 (GRCm39)	P279L	probably benign	Het
Slc18a1	C	A	8: 69,495,401 (GRCm39)	V368F	possibly damaging	Het
Tap1	A	T	17: 34,408,206 (GRCm39)	D194V	probably damaging	Het
Tuba1c	A	G	15: 98,935,496 (GRCm39)	Y319C	probably damaging	Het
Unc79	T	A	12: 103,036,416 (GRCm39)	I579N	probably damaging	Het
Zbtb22	G	T	17: 34,135,956 (GRCm39)	V34L	probably damaging	Het

Other mutations in 4921504E06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00776:4921504E06Rik	APN	2	19,545,182 (GRCm39)	missense	probably benign	0.06
IGL01590:4921504E06Rik	APN	2	19,482,590 (GRCm39)	splice site	probably benign
IGL02264:4921504E06Rik	APN	2	19,547,180 (GRCm39)	splice site	probably null
IGL02591:4921504E06Rik	APN	2	19,485,249 (GRCm39)	missense	probably benign	0.26
H8786:4921504E06Rik	UTSW	2	19,498,905 (GRCm39)	missense	probably benign	0.04
R0545:4921504E06Rik	UTSW	2	19,547,187 (GRCm39)	missense	probably damaging	1.00
R0762:4921504E06Rik	UTSW	2	19,482,667 (GRCm39)	missense	probably damaging	0.97
R1325:4921504E06Rik	UTSW	2	19,499,938 (GRCm39)	missense	possibly damaging	0.71
R1456:4921504E06Rik	UTSW	2	19,485,731 (GRCm39)	critical splice donor site	probably null
R2013:4921504E06Rik	UTSW	2	19,545,124 (GRCm39)	missense	probably benign	0.01
R2089:4921504E06Rik	UTSW	2	19,522,357 (GRCm39)	missense	probably damaging	1.00
R2091:4921504E06Rik	UTSW	2	19,522,357 (GRCm39)	missense	probably damaging	1.00
R2091:4921504E06Rik	UTSW	2	19,522,357 (GRCm39)	missense	probably damaging	1.00
R3922:4921504E06Rik	UTSW	2	19,485,371 (GRCm39)	missense	probably benign	0.00
R3982:4921504E06Rik	UTSW	2	19,547,180 (GRCm39)	splice site	probably null
R3983:4921504E06Rik	UTSW	2	19,547,180 (GRCm39)	splice site	probably null
R4074:4921504E06Rik	UTSW	2	19,485,401 (GRCm39)	missense	probably damaging	0.96
R4995:4921504E06Rik	UTSW	2	19,498,995 (GRCm39)	nonsense	probably null
R5303:4921504E06Rik	UTSW	2	19,521,110 (GRCm39)	missense	possibly damaging	0.92
R5308:4921504E06Rik	UTSW	2	19,528,892 (GRCm39)	missense	probably damaging	1.00
R6227:4921504E06Rik	UTSW	2	19,558,581 (GRCm39)	splice site	probably null
R6253:4921504E06Rik	UTSW	2	19,528,929 (GRCm39)	missense	possibly damaging	0.53
R6268:4921504E06Rik	UTSW	2	19,545,219 (GRCm39)	missense	probably benign	0.10
R6496:4921504E06Rik	UTSW	2	19,545,217 (GRCm39)	missense	probably benign	0.17
R7196:4921504E06Rik	UTSW	2	19,498,806 (GRCm39)	missense	probably benign	0.00
R7472:4921504E06Rik	UTSW	2	19,545,219 (GRCm39)	missense	probably benign	0.10
R8150:4921504E06Rik	UTSW	2	19,538,635 (GRCm39)	missense	probably benign	0.10
R8534:4921504E06Rik	UTSW	2	19,545,153 (GRCm39)	missense	probably damaging	1.00
R9067:4921504E06Rik	UTSW	2	19,522,493 (GRCm39)	missense	probably damaging	0.98
Z1177:4921504E06Rik	UTSW	2	19,485,343 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- CAATGCAGTTCACTGTAGGTAAC -3'
(R):5'- AGAGGGGACACACTTTCTGC -3'

Sequencing Primer
(F):5'- TGGTCAGTTTCCAGAGCACAC -3'
(R):5'- TGCGGCCTCCTTTAGCG -3'

Posted On

2020-06-30