Mutagenetix > Incidental Mutation

Incidental Mutation 'R9585:4933411K16Rik'

722779

Institutional Source

Beutler Lab

Gene Symbol

4933411K16Rik

Ensembl Gene

ENSMUSG00000090369

Gene Name

RIKEN cDNA 4933411K16 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R9585 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42040687-42042066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42041352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 161 (E161G)

Ref Sequence

ENSEMBL: ENSMUSP00000131279 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081714] [ENSMUST00000164518] [ENSMUST00000172244]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081714

SMART Domains

Protein: ENSMUSP00000080414
Gene: ENSMUSG00000025176

Domain	Start	End	E-Value	Type
DHDPS	28	319	8.34e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164518
AA Change: E161G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000131279
Gene: ENSMUSG00000090369
AA Change: E161G

Domain	Start	End	E-Value	Type
low complexity region	195	206	N/A	INTRINSIC
low complexity region	225	248	N/A	INTRINSIC
low complexity region	264	292	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172244

SMART Domains

Protein: ENSMUSP00000126037
Gene: ENSMUSG00000025176

Domain	Start	End	E-Value	Type
Pfam:DHDPS	57	156	5.8e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,199,993 (GRCm39)	D533V	possibly damaging	Het
Abca12	A	G	1: 71,342,745 (GRCm39)	S912P	probably damaging	Het
Abca3	G	A	17: 24,619,486 (GRCm39)	M1196I	probably benign	Het
Adprs	A	T	4: 126,211,786 (GRCm39)	D175E	probably benign	Het
Asrgl1	A	G	19: 9,090,398 (GRCm39)	L316P	probably benign	Het
Avl9	T	A	6: 56,734,299 (GRCm39)	M626K	probably damaging	Het
Birc6	A	G	17: 74,916,265 (GRCm39)	N1727S	probably damaging	Het
Casp14	G	A	10: 78,549,194 (GRCm39)	R251W	probably damaging	Het
Cfap69	A	G	5: 5,631,269 (GRCm39)	I919T	possibly damaging	Het
Cibar2	T	C	8: 120,901,450 (GRCm39)	E85G	probably null	Het
Cps1	T	A	1: 67,195,341 (GRCm39)	M254K	probably damaging	Het
Ctc1	A	G	11: 68,925,490 (GRCm39)	E1009G	probably damaging	Het
Ddx25	A	T	9: 35,455,009 (GRCm39)	Y426*	probably null	Het
Dok3	A	G	13: 55,672,057 (GRCm39)	F207S	probably damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fcrla	A	T	1: 170,749,868 (GRCm39)	M1K	probably null	Het
Heatr4	A	T	12: 84,014,472 (GRCm39)	S588R	probably damaging	Het
Iglv3	A	G	16: 19,059,960 (GRCm39)	*123Q	probably null	Het
Igsf9b	T	C	9: 27,233,532 (GRCm39)	I344T	probably damaging	Het
Il18	T	C	9: 50,490,661 (GRCm39)	S99P	probably damaging	Het
Krt36	G	A	11: 99,994,892 (GRCm39)	L227F	probably damaging	Het
Lrriq1	A	G	10: 103,051,250 (GRCm39)	S501P	probably benign	Het
Lvrn	T	C	18: 47,011,411 (GRCm39)		probably null	Het
Myo18a	T	A	11: 77,709,495 (GRCm39)	M535K	probably benign	Het
Myocd	T	A	11: 65,095,192 (GRCm39)	S158C	probably damaging	Het
Naip6	A	T	13: 100,436,577 (GRCm39)	C649S	probably damaging	Het
Oasl2	T	C	5: 115,035,901 (GRCm39)	V59A	probably damaging	Het
Obscn	C	A	11: 58,965,831 (GRCm39)	V2942F	probably benign	Het
Or10a49	T	A	7: 108,467,552 (GRCm39)	T270S	probably benign	Het
Or5l14	T	A	2: 87,792,919 (GRCm39)	T106S	probably benign	Het
Osbpl6	A	G	2: 76,354,438 (GRCm39)	T18A	probably benign	Het
Pcf11	A	T	7: 92,311,006 (GRCm39)	D327E	probably benign	Het
Per3	G	T	4: 151,097,138 (GRCm39)	Q796K	probably benign	Het
Pex5l	T	C	3: 33,060,091 (GRCm39)	T227A	probably benign	Het
Phf11b	G	T	14: 59,568,704 (GRCm39)	P70T	probably benign	Het
Pkd1l1	T	G	11: 8,804,390 (GRCm39)	I2184L		Het
Polr3a	A	T	14: 24,502,289 (GRCm39)	M1288K	probably damaging	Het
Pth1r	T	A	9: 110,573,847 (GRCm39)	R3S	probably benign	Het
Ptprk	C	A	10: 28,369,147 (GRCm39)	Y706*	probably null	Het
Rmi2	C	T	16: 10,703,983 (GRCm39)	T108I	probably benign	Het
Rrbp1	T	C	2: 143,799,479 (GRCm39)	N1076S	probably benign	Het
Setd3	A	C	12: 108,074,814 (GRCm39)		probably null	Het
Slc4a1	A	G	11: 102,247,915 (GRCm39)	Y360H	probably benign	Het
Sox21	A	G	14: 118,472,993 (GRCm39)	S19P	possibly damaging	Het
Speer4a2	T	C	5: 26,291,542 (GRCm39)	H88R	possibly damaging	Het
Stx18	T	A	5: 38,249,916 (GRCm39)	N76K	possibly damaging	Het
Sv2c	T	C	13: 96,122,466 (GRCm39)	T437A	probably benign	Het
Trrap	G	A	5: 144,777,330 (GRCm39)	V3043M	probably damaging	Het
Vps50	T	A	6: 3,600,348 (GRCm39)	S936T	probably benign	Het

Other mutations in 4933411K16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:4933411K16Rik	APN	19	42,040,983 (GRCm39)	missense	probably damaging	0.99
IGL02295:4933411K16Rik	APN	19	42,041,394 (GRCm39)	missense	possibly damaging	0.94
R0615:4933411K16Rik	UTSW	19	42,040,962 (GRCm39)	missense	possibly damaging	0.92
R1496:4933411K16Rik	UTSW	19	42,041,489 (GRCm39)	missense	probably damaging	0.99
R3829:4933411K16Rik	UTSW	19	42,041,322 (GRCm39)	missense	probably damaging	1.00
R4983:4933411K16Rik	UTSW	19	42,041,515 (GRCm39)	missense	possibly damaging	0.87
R5717:4933411K16Rik	UTSW	19	42,041,484 (GRCm39)	missense	probably benign	0.17
R6719:4933411K16Rik	UTSW	19	42,041,151 (GRCm39)	missense	possibly damaging	0.73
R7120:4933411K16Rik	UTSW	19	42,041,112 (GRCm39)	missense	probably benign
R7121:4933411K16Rik	UTSW	19	42,041,112 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGGAAGCTCAATGACCAAAG -3'
(R):5'- TTGGATGATGACCCTGGTAGC -3'

Sequencing Primer
(F):5'- GCTCAATGACCAAAGAGATGC -3'
(R):5'- CCCTGGTAGCTGGAGTAAAC -3'

Posted On

2022-08-09