Mutagenetix > Incidental Mutation

Incidental Mutation 'R8150:4921504E06Rik'

632892

Institutional Source

Beutler Lab

Gene Symbol

4921504E06Rik

Ensembl Gene

ENSMUSG00000026734

Gene Name

RIKEN cDNA 4921504E06 gene

Synonyms

MMRRC Submission

067576-MU

Accession Numbers

Essential gene?

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

Stock #

R8150 (G1)

Quality Score

209.009

Status

Not validated

Chromosome

Chromosomal Location

19467648-19558721 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19538635 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 129 (M129L)

Ref Sequence

ENSEMBL: ENSMUSP00000058720 (fasta)

Gene Model

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

AlphaFold

Q8CET2

Predicted Effect

probably benign
Transcript: ENSMUST00000062060
AA Change: M129L

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058720
Gene: ENSMUSG00000026734
AA Change: M129L

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: 99.5%
10x: 98.5%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	G	3: 59,843,558 (GRCm39)	D84G	probably damaging	Het
Abca2	T	C	2: 25,337,393 (GRCm39)	I2416T	probably damaging	Het
Abca3	A	G	17: 24,615,522 (GRCm39)	D871G	probably benign	Het
Akap9	C	T	5: 4,011,982 (GRCm39)	T895I	probably damaging	Het
Aldh8a1	A	G	10: 21,271,444 (GRCm39)	E390G	probably damaging	Het
Ank2	T	A	3: 126,741,162 (GRCm39)	D1574V		Het
Blmh	T	C	11: 76,859,455 (GRCm39)	V352A	probably benign	Het
Cacna1i	T	C	15: 80,259,540 (GRCm39)	L1270P	probably damaging	Het
Ccdc80	T	A	16: 44,947,792 (GRCm39)	H923Q	probably damaging	Het
Cdc27	G	A	11: 104,406,286 (GRCm39)	H610Y	probably damaging	Het
Cep126	T	C	9: 8,101,791 (GRCm39)	I248V	probably benign	Het
Ces5a	T	C	8: 94,257,430 (GRCm39)	N125S	probably damaging	Het
Chd3	G	A	11: 69,254,510 (GRCm39)	H201Y	probably benign	Het
Cpeb1	T	C	7: 81,007,152 (GRCm39)	T292A	probably damaging	Het
Gli2	G	A	1: 118,763,558 (GRCm39)	T1531I	probably damaging	Het
Gm6871	T	C	7: 41,197,185 (GRCm39)	T7A		Het
Kank1	A	G	19: 25,388,163 (GRCm39)	D612G	possibly damaging	Het
Lhcgr	AT	ATT	17: 89,049,677 (GRCm39)	615	probably null	Het
Mfsd6	T	A	1: 52,747,800 (GRCm39)	D355V	probably benign	Het
Myo7a	T	C	7: 97,712,846 (GRCm39)	K1710E	probably benign	Het
Or13d1	C	G	4: 52,970,788 (GRCm39)	H56D	probably damaging	Het
Or52ae7	A	G	7: 103,119,459 (GRCm39)	D71G	probably damaging	Het
Pcdha8	G	A	18: 37,126,264 (GRCm39)	V249M	probably damaging	Het
Pglyrp3	A	G	3: 91,933,790 (GRCm39)	D145G	probably benign	Het
Pkhd1l1	A	G	15: 44,410,055 (GRCm39)	K2521E	possibly damaging	Het
Pld3	A	G	7: 27,232,086 (GRCm39)	V398A	probably damaging	Het
Plxnb1	A	T	9: 108,941,146 (GRCm39)	T1642S	probably damaging	Het
Ppp2r1a	T	G	17: 21,179,700 (GRCm39)	V348G	possibly damaging	Het
Prdm2	C	A	4: 142,859,303 (GRCm39)	C1329F	possibly damaging	Het
Ric8a	G	T	7: 140,441,269 (GRCm39)	G423V	probably damaging	Het
Rnf17	A	G	14: 56,658,593 (GRCm39)	D94G	probably benign	Het
Serpina3f	T	C	12: 104,185,769 (GRCm39)	F325L	probably damaging	Het
Sin3a	T	A	9: 57,034,568 (GRCm39)	V1247E	possibly damaging	Het
Skint5	C	A	4: 113,798,087 (GRCm39)	M165I	probably benign	Het
Slc19a3	T	G	1: 83,000,216 (GRCm39)	Y267S	probably damaging	Het
Slc22a27	A	T	19: 7,887,390 (GRCm39)	F196Y	possibly damaging	Het
Slc5a4b	A	T	10: 75,939,680 (GRCm39)	I152N	possibly damaging	Het
Tbc1d9	T	A	8: 83,982,519 (GRCm39)	V768E	probably damaging	Het
Tex15	T	A	8: 34,063,534 (GRCm39)	M988K	probably benign	Het
Top2b	T	A	14: 16,393,291 (GRCm38)	F317I	probably damaging	Het
Wfdc8	A	T	2: 164,439,455 (GRCm39)	L309*	probably null	Het
Wipf1	G	A	2: 73,267,879 (GRCm39)	P173L	possibly damaging	Het
Zfp217	G	A	2: 169,961,571 (GRCm39)	S252F	possibly damaging	Het
Zfp949	C	T	9: 88,452,053 (GRCm39)	T541I	probably benign	Het
Zkscan16	T	A	4: 58,952,407 (GRCm39)	I235N	probably benign	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
R8146:4921504E06Rik	UTSW	2	19,498,814 (GRCm39)	missense	possibly damaging	0.83
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'- TGAACAGCCTAAGCCAGAATTC -3'
(R):5'- ATGCAAGTGGCTCTTACTCC -3'

Sequencing Primer
(F):5'- TGAGATGACTTGAGATTTTGGAAAAC -3'
(R):5'- TGATGTGTATAATGAGACTCTGTCAG -3'

Posted On

2020-06-30