Mutagenetix > Incidental Mutation

Incidental Mutation 'R1945:4930562C15Rik'

216622

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

MMRRC Submission

039963-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1945 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4653280-4685550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4653549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 33 (I33V)

Ref Sequence

ENSEMBL: ENSMUSP00000097784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000177042]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000100211
AA Change: I33V

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: I33V

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.54e-5	PROSPERO
internal_repeat_1	314	341	2.54e-5	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
Pfam:DUF4795	745	960	1.7e-46	PFAM
low complexity region	1095	1109	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177042

SMART Domains

Protein: ENSMUSP00000135160
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.39e-6	PROSPERO
internal_repeat_1	314	341	2.39e-6	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
internal_repeat_2	470	523	5.51e-5	PROSPERO
internal_repeat_2	514	568	5.51e-5	PROSPERO
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
coiled coil region	781	799	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	ACGTCTTCACCAGGTAATC	AC	4: 53,061,509 (GRCm39)		probably null	Het
Amotl2	T	C	9: 102,597,753 (GRCm39)	S171P	probably benign	Het
Armh4	T	A	14: 50,005,940 (GRCm39)	E585V	probably damaging	Het
Atf6	A	T	1: 170,682,710 (GRCm39)	V34E	probably benign	Het
Atrip	T	A	9: 108,900,935 (GRCm39)	I135F	probably damaging	Het
Bglap	A	G	3: 88,290,971 (GRCm39)	Y87H	probably damaging	Het
Camk2n1	G	A	4: 138,184,094 (GRCm39)	V78I	possibly damaging	Het
Ccdc92b	A	G	11: 74,520,835 (GRCm39)	I46V	probably benign	Het
Cdc14b	T	C	13: 64,367,704 (GRCm39)	Y208C	probably damaging	Het
Cdc42bpb	C	T	12: 111,265,567 (GRCm39)	R1455Q	probably damaging	Het
Cep170	C	A	1: 176,621,100 (GRCm39)	G26*	probably null	Het
Cfap46	A	G	7: 139,259,819 (GRCm39)	F217S	probably damaging	Het
Col11a2	A	T	17: 34,278,142 (GRCm39)	D691V	probably damaging	Het
Col7a1	G	A	9: 108,789,078 (GRCm39)	V798I	unknown	Het
Coq8b	CGCA	CGCAGCA	7: 26,933,405 (GRCm39)		probably benign	Het
Coq8b	GCA	GCAACA	7: 26,933,406 (GRCm39)		probably benign	Het
Dcaf5	T	C	12: 80,385,468 (GRCm39)	D886G	probably benign	Het
Ern1	A	G	11: 106,312,776 (GRCm39)	S202P	probably damaging	Het
Etaa1	A	G	11: 17,897,233 (GRCm39)	C295R	probably damaging	Het
Ghdc	C	T	11: 100,660,031 (GRCm39)	A239T	probably benign	Het
Grik4	T	C	9: 42,432,300 (GRCm39)	D899G	possibly damaging	Het
Hacd2	C	A	16: 34,922,354 (GRCm39)	T181K	possibly damaging	Het
Havcr2	T	C	11: 46,345,877 (GRCm39)	L17P	unknown	Het
Herc3	T	C	6: 58,864,424 (GRCm39)	V686A	probably damaging	Het
Hyal3	T	C	9: 107,462,671 (GRCm39)	L235P	probably damaging	Het
Itgb4	C	T	11: 115,884,279 (GRCm39)	Q988*	probably null	Het
Itprid2	T	C	2: 79,492,996 (GRCm39)	V1181A	probably benign	Het
Krt32	T	A	11: 99,975,670 (GRCm39)		probably null	Het
Krt33a	T	C	11: 99,903,535 (GRCm39)	N199S	probably benign	Het
Lama1	T	A	17: 68,052,848 (GRCm39)	S394T	probably benign	Het
Lamp1	T	C	8: 13,222,545 (GRCm39)	V243A	probably benign	Het
Loxhd1	A	G	18: 77,492,504 (GRCm39)	Y1315C	probably damaging	Het
Macf1	A	T	4: 123,384,453 (GRCm39)	L1148*	probably null	Het
Mill2	A	G	7: 18,575,419 (GRCm39)	H42R	probably benign	Het
Myo15a	T	C	11: 60,392,909 (GRCm39)	F2194L	probably damaging	Het
Myo15b	A	T	11: 115,769,224 (GRCm39)	I1472F	probably damaging	Het
Nasp	T	C	4: 116,479,965 (GRCm39)	S36G	possibly damaging	Het
Nav2	A	G	7: 49,114,620 (GRCm39)	Y868C	probably damaging	Het
Niban1	T	C	1: 151,571,979 (GRCm39)	I308T	probably damaging	Het
Nono	T	C	X: 100,485,429 (GRCm39)		probably null	Het
Npc1l1	T	A	11: 6,164,588 (GRCm39)	I1154F	possibly damaging	Het
Npc1l1	C	T	11: 6,175,199 (GRCm39)	W592*	probably null	Het
Nsg2	T	C	11: 32,005,068 (GRCm39)	V90A	probably damaging	Het
Odf4	T	C	11: 68,812,983 (GRCm39)	N225S	possibly damaging	Het
Oosp2	C	T	19: 11,626,959 (GRCm39)		probably null	Het
Or1j12	T	C	2: 36,343,043 (GRCm39)	W149R	probably damaging	Het
Or4c123	T	C	2: 89,127,128 (GRCm39)	Y162C	probably damaging	Het
Pcdhb4	A	T	18: 37,441,921 (GRCm39)	R410S	probably damaging	Het
Pde6c	T	A	19: 38,145,967 (GRCm39)	D418E	probably damaging	Het
Pik3ap1	A	T	19: 41,262,776 (GRCm39)	S799T	probably benign	Het
Pitx2	A	G	3: 129,012,185 (GRCm39)	N198S	probably damaging	Het
Psmb3	T	C	11: 97,601,981 (GRCm39)	F117S	probably benign	Het
Ptprq	A	T	10: 107,418,249 (GRCm39)	M1709K	probably benign	Het
Recql5	G	A	11: 115,819,123 (GRCm39)	R148*	probably null	Het
Reep3	A	G	10: 66,871,678 (GRCm39)	S97P	probably damaging	Het
Rnase12	T	A	14: 51,294,463 (GRCm39)	Q72L	possibly damaging	Het
Scd3	T	C	19: 44,224,219 (GRCm39)	Y151H	probably benign	Het
Scn10a	A	T	9: 119,520,520 (GRCm39)	S127T	possibly damaging	Het
Scn7a	A	T	2: 66,506,324 (GRCm39)	W1522R	probably damaging	Het
Senp7	A	G	16: 55,944,309 (GRCm39)	H211R	probably damaging	Het
Septin10	C	T	10: 59,016,841 (GRCm39)		probably null	Het
Serpinb6d	T	C	13: 33,851,663 (GRCm39)	V140A	possibly damaging	Het
Sned1	A	G	1: 93,198,960 (GRCm39)	E457G	probably benign	Het
Spag17	A	C	3: 99,847,298 (GRCm39)	M76L	probably benign	Het
Spata31e2	C	A	1: 26,721,395 (GRCm39)	V1262F	probably benign	Het
Spata31e3	C	T	13: 50,399,527 (GRCm39)	G933E	probably damaging	Het
Sspo	A	T	6: 48,466,707 (GRCm39)	E105V	possibly damaging	Het
Stoml3	T	A	3: 53,412,866 (GRCm39)	D173E	possibly damaging	Het
Sun3	T	C	11: 8,988,296 (GRCm39)	I9V	probably benign	Het
Svil	T	C	18: 5,117,059 (GRCm39)	W2165R	probably damaging	Het
Tbl2	T	A	5: 135,186,454 (GRCm39)	S184T	possibly damaging	Het
Tdrd7	A	T	4: 45,965,474 (GRCm39)	T31S	probably benign	Het
Tmeff1	A	G	4: 48,614,960 (GRCm39)	N139S	possibly damaging	Het
Trip13	T	C	13: 74,076,043 (GRCm39)	R199G	probably damaging	Het
Tshb	G	T	3: 102,684,831 (GRCm39)	Y124*	probably null	Het
Ttn	T	C	2: 76,560,366 (GRCm39)	E29345G	probably damaging	Het
Usp33	T	A	3: 152,085,223 (GRCm39)	S620T	probably benign	Het
Vipr1	G	A	9: 121,497,540 (GRCm39)	G353R	probably damaging	Het
Vipr1	G	T	9: 121,497,541 (GRCm39)	G353V	probably damaging	Het
Vps13c	A	T	9: 67,793,558 (GRCm39)	D437V	probably damaging	Het
Ylpm1	T	A	12: 85,062,192 (GRCm39)	S240T	probably damaging	Het
Zfp772	A	G	7: 7,206,629 (GRCm39)	I354T	probably benign	Het
Zfp959	T	A	17: 56,204,231 (GRCm39)	Y86*	probably null	Het

Other mutations in 4930562C15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:4930562C15Rik	APN	16	4,682,510 (GRCm39)	missense	probably benign	0.31
IGL01610:4930562C15Rik	APN	16	4,669,429 (GRCm39)	splice site	probably benign
IGL02869:4930562C15Rik	APN	16	4,685,323 (GRCm39)	missense	possibly damaging	0.68
IGL03242:4930562C15Rik	APN	16	4,667,189 (GRCm39)	missense	unknown
R0063:4930562C15Rik	UTSW	16	4,678,912 (GRCm39)	nonsense	probably null
R0063:4930562C15Rik	UTSW	16	4,678,912 (GRCm39)	nonsense	probably null
R0083:4930562C15Rik	UTSW	16	4,667,406 (GRCm39)	missense	unknown
R0565:4930562C15Rik	UTSW	16	4,682,200 (GRCm39)	missense	probably benign	0.22
R0630:4930562C15Rik	UTSW	16	4,668,803 (GRCm39)	missense	possibly damaging	0.90
R0734:4930562C15Rik	UTSW	16	4,668,198 (GRCm39)	missense	probably benign	0.01
R1200:4930562C15Rik	UTSW	16	4,667,536 (GRCm39)	missense	unknown
R1738:4930562C15Rik	UTSW	16	4,682,475 (GRCm39)	missense	probably damaging	1.00
R1775:4930562C15Rik	UTSW	16	4,669,422 (GRCm39)	splice site	probably null
R2132:4930562C15Rik	UTSW	16	4,653,835 (GRCm39)	missense	unknown
R2445:4930562C15Rik	UTSW	16	4,682,261 (GRCm39)	splice site	probably null
R2696:4930562C15Rik	UTSW	16	4,668,228 (GRCm39)	missense	probably benign	0.04
R4729:4930562C15Rik	UTSW	16	4,667,187 (GRCm39)	missense	unknown
R4779:4930562C15Rik	UTSW	16	4,667,613 (GRCm39)	missense	unknown
R4806:4930562C15Rik	UTSW	16	4,667,536 (GRCm39)	missense	unknown
R4808:4930562C15Rik	UTSW	16	4,667,536 (GRCm39)	missense	unknown
R4876:4930562C15Rik	UTSW	16	4,667,536 (GRCm39)	missense	unknown
R4931:4930562C15Rik	UTSW	16	4,678,910 (GRCm39)	missense	possibly damaging	0.47
R4956:4930562C15Rik	UTSW	16	4,672,816 (GRCm39)	missense	probably damaging	0.99
R5085:4930562C15Rik	UTSW	16	4,653,837 (GRCm39)	nonsense	probably null
R5203:4930562C15Rik	UTSW	16	4,653,462 (GRCm39)	missense	unknown
R5229:4930562C15Rik	UTSW	16	4,667,915 (GRCm39)	missense	possibly damaging	0.73
R5461:4930562C15Rik	UTSW	16	4,682,227 (GRCm39)	missense	probably damaging	1.00
R5462:4930562C15Rik	UTSW	16	4,682,227 (GRCm39)	missense	probably damaging	1.00
R5464:4930562C15Rik	UTSW	16	4,682,227 (GRCm39)	missense	probably damaging	1.00
R5595:4930562C15Rik	UTSW	16	4,682,143 (GRCm39)	missense	probably benign	0.01
R6054:4930562C15Rik	UTSW	16	4,653,729 (GRCm39)	missense	unknown
R6405:4930562C15Rik	UTSW	16	4,669,742 (GRCm39)	missense	probably damaging	0.97
R6859:4930562C15Rik	UTSW	16	4,669,799 (GRCm39)	missense	possibly damaging	0.86
R7124:4930562C15Rik	UTSW	16	4,682,196 (GRCm39)	missense	probably benign	0.02
R7139:4930562C15Rik	UTSW	16	4,668,048 (GRCm39)	missense	probably benign	0.00
R7182:4930562C15Rik	UTSW	16	4,667,578 (GRCm39)	missense	unknown
R7219:4930562C15Rik	UTSW	16	4,667,508 (GRCm39)	missense	unknown
R7366:4930562C15Rik	UTSW	16	4,653,633 (GRCm39)	missense	unknown
R7592:4930562C15Rik	UTSW	16	4,667,138 (GRCm39)	missense	unknown
R7759:4930562C15Rik	UTSW	16	4,682,514 (GRCm39)	missense	probably benign	0.01
R7789:4930562C15Rik	UTSW	16	4,682,175 (GRCm39)	missense	probably benign	0.01
R7873:4930562C15Rik	UTSW	16	4,684,091 (GRCm39)	missense	probably benign
R7916:4930562C15Rik	UTSW	16	4,682,454 (GRCm39)	nonsense	probably null
R8093:4930562C15Rik	UTSW	16	4,669,368 (GRCm39)	missense	possibly damaging	0.86
R8169:4930562C15Rik	UTSW	16	4,684,082 (GRCm39)	missense	probably benign	0.00
R8278:4930562C15Rik	UTSW	16	4,668,040 (GRCm39)	missense	probably benign	0.33
R8372:4930562C15Rik	UTSW	16	4,682,152 (GRCm39)	missense	probably damaging	0.99
R8493:4930562C15Rik	UTSW	16	4,653,453 (GRCm39)	start codon destroyed	unknown
R8549:4930562C15Rik	UTSW	16	4,681,061 (GRCm39)	critical splice donor site	probably null
R8947:4930562C15Rik	UTSW	16	4,665,292 (GRCm39)	missense	unknown
R9137:4930562C15Rik	UTSW	16	4,685,312 (GRCm39)	missense	probably benign
R9339:4930562C15Rik	UTSW	16	4,667,521 (GRCm39)	missense	unknown
R9422:4930562C15Rik	UTSW	16	4,667,153 (GRCm39)	missense
R9561:4930562C15Rik	UTSW	16	4,680,980 (GRCm39)	missense	possibly damaging	0.52
R9618:4930562C15Rik	UTSW	16	4,667,418 (GRCm39)	missense	unknown
R9747:4930562C15Rik	UTSW	16	4,668,711 (GRCm39)	missense	probably damaging	1.00
R9773:4930562C15Rik	UTSW	16	4,668,057 (GRCm39)	missense	possibly damaging	0.86
X0028:4930562C15Rik	UTSW	16	4,685,231 (GRCm39)	missense	possibly damaging	0.83
Z1176:4930562C15Rik	UTSW	16	4,684,112 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- CTTGCTGACCACTGTGACTTG -3'
(R):5'- TTCGATTCGGTCTACTACTTGG -3'

Sequencing Primer
(F):5'- AAGCCTCTCAGGACCTGTTG -3'
(R):5'- GGTCAAAGATGTTGCTAAGCCTC -3'

Posted On

2014-08-01