Mutagenetix > Incidental Mutation

Incidental Mutation 'R8921:4930516K23Rik'

679255

Institutional Source

Beutler Lab

Gene Symbol

4930516K23Rik

Ensembl Gene

ENSMUSG00000090219

Gene Name

RIKEN cDNA 4930516K23 gene

Synonyms

MMRRC Submission

068707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8921 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103648007-103786612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103708083 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 242 (T242M)

Ref Sequence

ENSEMBL: ENSMUSP00000073707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074064] [ENSMUST00000138055] [ENSMUST00000217217]

AlphaFold

Q8VGY1

Predicted Effect

probably damaging
Transcript: ENSMUST00000074064
AA Change: T242M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073707
Gene: ENSMUSG00000090219
AA Change: T242M

Domain	Start	End	E-Value	Type
Pfam:7tm_4	33	312	2.6e-124	PFAM
Pfam:7TM_GPCR_Srsx	37	255	3.1e-7	PFAM
Pfam:7tm_1	43	294	3.2e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138055

SMART Domains

Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824

Domain	Start	End	E-Value	Type
transmembrane domain	29	51	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000217217
AA Change: T242M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

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

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921536K21Rik	T	A	11: 3,844,933 (GRCm39)	E52V	probably benign	Het
Abcg5	T	A	17: 84,990,253 (GRCm39)	I17F	probably benign	Het
Adam25	T	A	8: 41,207,710 (GRCm39)	Y325*	probably null	Het
Adamts16	C	T	13: 70,939,910 (GRCm39)		probably benign	Het
Akr1b1	A	T	6: 34,289,639 (GRCm39)	V57E	probably benign	Het
Api5	A	G	2: 94,255,374 (GRCm39)	L267P	probably damaging	Het
Asap3	T	C	4: 135,963,726 (GRCm39)	Y329H	probably benign	Het
Atp13a4	C	T	16: 29,273,592 (GRCm39)	R442K		Het
Cadps2	T	C	6: 23,302,300 (GRCm39)	D1129G	probably benign	Het
Cd79b	T	A	11: 106,203,632 (GRCm39)	Q145L	probably benign	Het
Cdh23	C	T	10: 60,140,908 (GRCm39)	E3147K	probably damaging	Het
Cfap251	A	G	5: 123,424,481 (GRCm39)	D722G	possibly damaging	Het
Col4a4	A	G	1: 82,431,533 (GRCm39)	W1584R	unknown	Het
Cops8	T	C	1: 90,532,155 (GRCm39)	L46P	probably damaging	Het
Cpne1	T	C	2: 155,913,965 (GRCm39)	Y146C	probably benign	Het
Ctdnep1	T	A	11: 69,875,311 (GRCm39)	V80E	probably damaging	Het
Cttnbp2	A	G	6: 18,434,877 (GRCm39)	I327T	probably benign	Het
Cyp4a32	T	C	4: 115,468,460 (GRCm39)	V314A	probably damaging	Het
Dlgap3	C	A	4: 127,127,463 (GRCm39)	H710Q	probably damaging	Het
Dnah9	T	C	11: 65,802,747 (GRCm39)	M3448V	probably benign	Het
E030018B13Rik	C	A	7: 63,569,727 (GRCm39)	Q84K	unknown	Het
Efna5	A	G	17: 63,188,053 (GRCm39)	S25P	possibly damaging	Het
Egfl8	T	G	17: 34,833,751 (GRCm39)	T76P	probably damaging	Het
Endod1	A	G	9: 14,268,942 (GRCm39)	L181P	probably damaging	Het
Epha3	A	G	16: 63,472,838 (GRCm39)	L349P	possibly damaging	Het
Fam161b	T	A	12: 84,395,056 (GRCm39)	T553S	probably benign	Het
Fmnl1	T	C	11: 103,087,967 (GRCm39)	F981L	unknown	Het
Galr2	T	A	11: 116,173,973 (GRCm39)	V201E	probably damaging	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Greb1l	T	C	18: 10,541,825 (GRCm39)	S1191P	probably benign	Het
Hmg20b	T	C	10: 81,184,821 (GRCm39)	R84G	probably damaging	Het
Inppl1	T	C	7: 101,472,593 (GRCm39)	D1234G	possibly damaging	Het
Insl5	A	G	4: 102,883,760 (GRCm39)	S54P	probably damaging	Het
Itpr1	T	A	6: 108,355,159 (GRCm39)	F483L	possibly damaging	Het
Kif21a	T	C	15: 90,855,930 (GRCm39)	E609G	probably benign	Het
Kpna7	A	T	5: 144,941,840 (GRCm39)	V150D	probably damaging	Het
L1td1	T	A	4: 98,622,175 (GRCm39)	C246S	possibly damaging	Het
Laptm4a	T	A	12: 8,988,139 (GRCm39)	M292K	possibly damaging	Het
Lefty2	C	G	1: 180,725,043 (GRCm39)	P258A	possibly damaging	Het
Map4k1	G	A	7: 28,701,052 (GRCm39)	V719M	probably damaging	Het
Nbas	T	A	12: 13,463,590 (GRCm39)	H1292Q	probably benign	Het
Nfkbia	C	T	12: 55,537,340 (GRCm39)	G250S	probably damaging	Het
Nkain3	T	C	4: 20,245,902 (GRCm39)	T163A	unknown	Het
Npcd	T	C	15: 79,713,163 (GRCm39)	E88G	probably benign	Het
Oas1f	A	T	5: 120,989,556 (GRCm39)	Y165F	probably benign	Het
Or10d4	T	A	9: 39,580,737 (GRCm39)	L128*	probably null	Het
Or51aa5	A	G	7: 103,167,030 (GRCm39)	I187T	possibly damaging	Het
Or52e2	T	C	7: 102,804,660 (GRCm39)	D98G	probably benign	Het
Phtf2	T	C	5: 21,008,275 (GRCm39)	I135M	probably benign	Het
Pi4ka	T	C	16: 17,125,604 (GRCm39)	E1177G		Het
Polr3gl	A	T	3: 96,485,833 (GRCm39)	D214E	probably damaging	Het
Pramel25	C	T	4: 143,519,322 (GRCm39)	Q28*	probably null	Het
Pramel51	T	C	12: 88,143,952 (GRCm39)	E295G	probably benign	Het
Prkar1a	C	A	11: 109,556,744 (GRCm39)	Q275K	probably benign	Het
Ptprc	A	G	1: 138,054,039 (GRCm39)		probably null	Het
Pwwp2a	C	A	11: 43,596,344 (GRCm39)	P503Q	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Rapgef6	T	C	11: 54,570,065 (GRCm39)	L1146S	probably benign	Het
Rara	C	A	11: 98,864,452 (GRCm39)	Q460K	unknown	Het
Rassf4	C	T	6: 116,638,897 (GRCm39)		probably benign	Het
Rere	A	G	4: 150,696,471 (GRCm39)	D492G	unknown	Het
Selenon	T	G	4: 134,268,153 (GRCm39)	K460T	possibly damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc35e1	T	C	8: 73,241,988 (GRCm39)	T245A	probably benign	Het
Stat4	C	T	1: 52,144,892 (GRCm39)	A726V	probably benign	Het
Stim1	G	T	7: 102,070,597 (GRCm39)	V277L	probably damaging	Het
Strbp	A	G	2: 37,514,503 (GRCm39)		probably null	Het
Tln2	T	C	9: 67,174,105 (GRCm39)	Y860C	probably damaging	Het
Tmod4	T	A	3: 95,033,289 (GRCm39)		probably null	Het
Tpm3-rs7	T	C	14: 113,552,493 (GRCm39)	V129A	probably benign	Het
Trp53bp2	C	T	1: 182,273,971 (GRCm39)	P41S		Het
Tubal3	G	A	13: 3,983,428 (GRCm39)	D403N	probably damaging	Het
Zfp369	T	C	13: 65,444,044 (GRCm39)	S396P	possibly damaging	Het
Zfp976	G	A	7: 42,262,575 (GRCm39)	H422Y	possibly damaging	Het

Other mutations in 4930516K23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6967:4930516K23Rik	UTSW	7	103,708,212 (GRCm39)	missense	probably benign	0.00
R7143:4930516K23Rik	UTSW	7	103,708,422 (GRCm39)	missense	probably damaging	1.00
R7539:4930516K23Rik	UTSW	7	103,708,470 (GRCm39)	missense	probably damaging	1.00
R7540:4930516K23Rik	UTSW	7	103,708,470 (GRCm39)	missense	probably damaging	1.00
R7578:4930516K23Rik	UTSW	7	103,708,104 (GRCm39)	missense	probably benign	0.08
R7594:4930516K23Rik	UTSW	7	103,708,470 (GRCm39)	missense	probably damaging	1.00
R7595:4930516K23Rik	UTSW	7	103,708,470 (GRCm39)	missense	probably damaging	1.00
Z1176:4930516K23Rik	UTSW	7	103,708,495 (GRCm39)	missense	probably damaging	1.00
Z1177:4930516K23Rik	UTSW	7	103,708,625 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAATCTTGGTCCCCAGCAG -3'
(R):5'- CTGCATCCAGACATGATTCGC -3'

Sequencing Primer
(F):5'- GGAGCCTTCGACGAATCTCCTTAG -3'
(R):5'- AGACATGATTCGCCTGCC -3'

Posted On

2021-08-02