Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:4933427D14Rik'

312950

Institutional Source

Beutler Lab

Gene Symbol

4933427D14Rik

Ensembl Gene

ENSMUSG00000020807

Gene Name

RIKEN cDNA 4933427D14 gene

Synonyms

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72153929-72207459 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72198741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 106 (R106G)

Ref Sequence

ENSEMBL: ENSMUSP00000115276 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108505] [ENSMUST00000108506] [ENSMUST00000131546] [ENSMUST00000142530]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000108505
AA Change: R106G

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

SMART Domains

Protein: ENSMUSP00000104145
Gene: ENSMUSG00000020807
AA Change: R106G

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108506
AA Change: R106G

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

SMART Domains

Protein: ENSMUSP00000104146
Gene: ENSMUSG00000020807
AA Change: R106G

Domain	Start	End	E-Value	Type
Pfam:DUF4673	1	954	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000131546
AA Change: R106G

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

SMART Domains

Protein: ENSMUSP00000122273
Gene: ENSMUSG00000020807
AA Change: R106G

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC
coiled coil region	256	279	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC
low complexity region	360	377	N/A	INTRINSIC
low complexity region	545	559	N/A	INTRINSIC
coiled coil region	625	653	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000142530
AA Change: R106G

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

SMART Domains

Protein: ENSMUSP00000115276
Gene: ENSMUSG00000020807
AA Change: R106G

Domain	Start	End	E-Value	Type
low complexity region	84	93	N/A	INTRINSIC
coiled coil region	210	231	N/A	INTRINSIC
coiled coil region	256	279	N/A	INTRINSIC
low complexity region	291	305	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144553

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154093

Meta Mutation Damage Score

0.3719

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031 (GRCm38)	I486T	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,431 (GRCm38)	S466T	probably benign	Het
Cfap54	A	G	10: 92,839,471 (GRCm38)	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245 (GRCm38)	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541 (GRCm38)	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170 (GRCm38)	A232V	probably damaging	Het
Dst	T	G	1: 34,011,898 (GRCm38)	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867 (GRCm38)	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465 (GRCm38)		probably benign	Het
Eps8	A	T	6: 137,509,155 (GRCm38)	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030 (GRCm38)	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793 (GRCm38)	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139 (GRCm38)	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448 (GRCm38)	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658 (GRCm38)	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486 (GRCm38)	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760 (GRCm38)	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352 (GRCm38)		probably benign	Het
Igsf10	A	G	3: 59,331,924 (GRCm38)	C279R	probably damaging	Het
Irak4	A	G	15: 94,554,740 (GRCm38)	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,558,323 (GRCm38)	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841 (GRCm38)		probably null	Het
Mast1	T	C	8: 84,918,764 (GRCm38)	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363 (GRCm38)	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078 (GRCm38)	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666 (GRCm38)	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804 (GRCm38)		probably benign	Het
Myh3	C	T	11: 67,096,436 (GRCm38)	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054 (GRCm38)	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551 (GRCm38)	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236 (GRCm38)	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586 (GRCm38)	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816 (GRCm38)	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962 (GRCm38)	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619 (GRCm38)	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480 (GRCm38)	V660A	probably benign	Het
Prdm6	T	C	18: 53,540,206 (GRCm38)	I186T	possibly damaging	Het
Prkd3	G	A	17: 78,959,141 (GRCm38)		probably benign	Het
Prrc2a	A	G	17: 35,157,932 (GRCm38)	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522 (GRCm38)	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053 (GRCm38)	N4424S		Het
Scrn3	T	C	2: 73,335,777 (GRCm38)	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,767,848 (GRCm38)	S66T	probably benign	Het
Setd3	T	C	12: 108,165,158 (GRCm38)	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,158,210 (GRCm38)		probably null	Het
Smad4	G	T	18: 73,677,736 (GRCm38)	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601 (GRCm38)	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961 (GRCm38)	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786 (GRCm38)	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277 (GRCm38)	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876 (GRCm38)	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662 (GRCm38)	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609 (GRCm38)	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140 (GRCm38)	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675 (GRCm38)	V502L	probably benign	Het
Vip	T	A	10: 5,642,590 (GRCm38)	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697 (GRCm38)	M1025L	probably benign	Het
Zfp541	A	G	7: 16,072,222 (GRCm38)	D94G	probably damaging	Het

Other mutations in 4933427D14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00707:4933427D14Rik	APN	11	72,178,504 (GRCm38)	missense	probably damaging	1.00
IGL01643:4933427D14Rik	APN	11	72,191,588 (GRCm38)	missense	probably damaging	1.00
IGL02004:4933427D14Rik	APN	11	72,191,597 (GRCm38)	missense	possibly damaging	0.62
IGL02308:4933427D14Rik	APN	11	72,202,482 (GRCm38)	missense	probably damaging	1.00
IGL02378:4933427D14Rik	APN	11	72,189,598 (GRCm38)	missense	probably benign	0.02
IGL02715:4933427D14Rik	APN	11	72,198,888 (GRCm38)	missense	probably damaging	1.00
IGL03330:4933427D14Rik	APN	11	72,159,428 (GRCm38)	missense	probably damaging	1.00
IGL03384:4933427D14Rik	APN	11	72,195,847 (GRCm38)	missense	possibly damaging	0.87
BB002:4933427D14Rik	UTSW	11	72,180,501 (GRCm38)	missense	probably benign	0.31
BB012:4933427D14Rik	UTSW	11	72,180,501 (GRCm38)	missense	probably benign	0.31
IGL03047:4933427D14Rik	UTSW	11	72,166,726 (GRCm38)	missense	possibly damaging	0.74
R0114:4933427D14Rik	UTSW	11	72,195,799 (GRCm38)	missense	probably damaging	1.00
R0526:4933427D14Rik	UTSW	11	72,169,783 (GRCm38)	missense	probably damaging	1.00
R0653:4933427D14Rik	UTSW	11	72,175,545 (GRCm38)	nonsense	probably null
R0669:4933427D14Rik	UTSW	11	72,198,845 (GRCm38)	missense	possibly damaging	0.73
R0729:4933427D14Rik	UTSW	11	72,159,455 (GRCm38)	missense	probably benign	0.07
R1797:4933427D14Rik	UTSW	11	72,198,459 (GRCm38)	missense	possibly damaging	0.77
R4744:4933427D14Rik	UTSW	11	72,175,539 (GRCm38)	missense	probably damaging	0.98
R4897:4933427D14Rik	UTSW	11	72,191,516 (GRCm38)	missense	probably damaging	1.00
R5023:4933427D14Rik	UTSW	11	72,166,755 (GRCm38)	missense	probably benign	0.07
R5057:4933427D14Rik	UTSW	11	72,166,755 (GRCm38)	missense	probably benign	0.07
R5100:4933427D14Rik	UTSW	11	72,166,651 (GRCm38)	missense	probably damaging	1.00
R5497:4933427D14Rik	UTSW	11	72,165,534 (GRCm38)	missense	probably benign	0.22
R5556:4933427D14Rik	UTSW	11	72,175,200 (GRCm38)	splice site	probably null
R5631:4933427D14Rik	UTSW	11	72,176,764 (GRCm38)	missense	possibly damaging	0.71
R5683:4933427D14Rik	UTSW	11	72,202,440 (GRCm38)	missense	probably benign
R5742:4933427D14Rik	UTSW	11	72,165,553 (GRCm38)	missense	possibly damaging	0.63
R6247:4933427D14Rik	UTSW	11	72,158,942 (GRCm38)	missense	probably benign	0.02
R6267:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
R6296:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
R6860:4933427D14Rik	UTSW	11	72,189,586 (GRCm38)	missense	probably damaging	1.00
R7023:4933427D14Rik	UTSW	11	72,178,403 (GRCm38)	critical splice donor site	probably null
R7328:4933427D14Rik	UTSW	11	72,169,780 (GRCm38)	critical splice donor site	probably null
R7514:4933427D14Rik	UTSW	11	72,195,802 (GRCm38)	missense	probably damaging	1.00
R7544:4933427D14Rik	UTSW	11	72,198,939 (GRCm38)	missense	probably damaging	1.00
R7925:4933427D14Rik	UTSW	11	72,180,501 (GRCm38)	missense	probably benign	0.31
R8204:4933427D14Rik	UTSW	11	72,166,780 (GRCm38)	missense	probably benign	0.01
R8280:4933427D14Rik	UTSW	11	72,195,841 (GRCm38)	missense	possibly damaging	0.70
R8316:4933427D14Rik	UTSW	11	72,168,786 (GRCm38)	missense	possibly damaging	0.70
R8366:4933427D14Rik	UTSW	11	72,176,695 (GRCm38)	nonsense	probably null
R8384:4933427D14Rik	UTSW	11	72,166,765 (GRCm38)	missense	probably benign	0.08
R8722:4933427D14Rik	UTSW	11	72,189,596 (GRCm38)	missense	probably benign	0.00
R8944:4933427D14Rik	UTSW	11	72,159,025 (GRCm38)	splice site	probably benign
R9749:4933427D14Rik	UTSW	11	72,189,695 (GRCm38)	missense	possibly damaging	0.95
X0063:4933427D14Rik	UTSW	11	72,176,769 (GRCm38)	missense	probably benign
X0065:4933427D14Rik	UTSW	11	72,189,575 (GRCm38)	missense	possibly damaging	0.65
Z1176:4933427D14Rik	UTSW	11	72,159,000 (GRCm38)	missense	probably benign	0.12
Z1186:4933427D14Rik	UTSW	11	72,198,534 (GRCm38)	missense	probably benign	0.00
Z1186:4933427D14Rik	UTSW	11	72,198,924 (GRCm38)	missense	probably damaging	1.00
Z1186:4933427D14Rik	UTSW	11	72,176,709 (GRCm38)	missense	possibly damaging	0.73
Z1186:4933427D14Rik	UTSW	11	72,189,616 (GRCm38)	missense	probably damaging	1.00
Z1186:4933427D14Rik	UTSW	11	72,195,712 (GRCm38)	frame shift	probably null
Z1186:4933427D14Rik	UTSW	11	72,195,743 (GRCm38)	missense	possibly damaging	0.73
Z1186:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
Z1186:4933427D14Rik	UTSW	11	72,195,764 (GRCm38)	frame shift	probably null
Z1186:4933427D14Rik	UTSW	11	72,195,769 (GRCm38)	missense	probably damaging	1.00
Z1186:4933427D14Rik	UTSW	11	72,198,482 (GRCm38)	missense	probably benign	0.13
Z1187:4933427D14Rik	UTSW	11	72,198,482 (GRCm38)	missense	probably benign	0.13
Z1187:4933427D14Rik	UTSW	11	72,195,764 (GRCm38)	frame shift	probably null
Z1187:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
Z1187:4933427D14Rik	UTSW	11	72,195,743 (GRCm38)	missense	possibly damaging	0.73
Z1187:4933427D14Rik	UTSW	11	72,195,712 (GRCm38)	frame shift	probably null
Z1187:4933427D14Rik	UTSW	11	72,195,710 (GRCm38)	frame shift	probably null
Z1187:4933427D14Rik	UTSW	11	72,189,616 (GRCm38)	missense	probably damaging	1.00
Z1187:4933427D14Rik	UTSW	11	72,176,709 (GRCm38)	missense	possibly damaging	0.73
Z1187:4933427D14Rik	UTSW	11	72,198,924 (GRCm38)	missense	probably damaging	1.00
Z1187:4933427D14Rik	UTSW	11	72,198,534 (GRCm38)	missense	probably benign	0.00
Z1188:4933427D14Rik	UTSW	11	72,198,534 (GRCm38)	missense	probably benign	0.00
Z1188:4933427D14Rik	UTSW	11	72,198,482 (GRCm38)	missense	probably benign	0.13
Z1188:4933427D14Rik	UTSW	11	72,195,764 (GRCm38)	frame shift	probably null
Z1188:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
Z1188:4933427D14Rik	UTSW	11	72,195,743 (GRCm38)	missense	possibly damaging	0.73
Z1188:4933427D14Rik	UTSW	11	72,195,712 (GRCm38)	frame shift	probably null
Z1188:4933427D14Rik	UTSW	11	72,189,616 (GRCm38)	missense	probably damaging	1.00
Z1188:4933427D14Rik	UTSW	11	72,176,709 (GRCm38)	missense	possibly damaging	0.73
Z1188:4933427D14Rik	UTSW	11	72,198,924 (GRCm38)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,198,534 (GRCm38)	missense	probably benign	0.00
Z1189:4933427D14Rik	UTSW	11	72,198,924 (GRCm38)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,176,709 (GRCm38)	missense	possibly damaging	0.73
Z1189:4933427D14Rik	UTSW	11	72,189,616 (GRCm38)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,195,712 (GRCm38)	frame shift	probably null
Z1189:4933427D14Rik	UTSW	11	72,195,743 (GRCm38)	missense	possibly damaging	0.73
Z1189:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,195,764 (GRCm38)	frame shift	probably null
Z1189:4933427D14Rik	UTSW	11	72,195,769 (GRCm38)	missense	probably damaging	1.00
Z1189:4933427D14Rik	UTSW	11	72,198,482 (GRCm38)	missense	probably benign	0.13
Z1190:4933427D14Rik	UTSW	11	72,198,482 (GRCm38)	missense	probably benign	0.13
Z1190:4933427D14Rik	UTSW	11	72,195,769 (GRCm38)	missense	probably damaging	1.00
Z1190:4933427D14Rik	UTSW	11	72,195,764 (GRCm38)	frame shift	probably null
Z1190:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
Z1190:4933427D14Rik	UTSW	11	72,195,743 (GRCm38)	missense	possibly damaging	0.73
Z1190:4933427D14Rik	UTSW	11	72,195,712 (GRCm38)	frame shift	probably null
Z1190:4933427D14Rik	UTSW	11	72,189,616 (GRCm38)	missense	probably damaging	1.00
Z1190:4933427D14Rik	UTSW	11	72,176,709 (GRCm38)	missense	possibly damaging	0.73
Z1190:4933427D14Rik	UTSW	11	72,198,924 (GRCm38)	missense	probably damaging	1.00
Z1190:4933427D14Rik	UTSW	11	72,198,534 (GRCm38)	missense	probably benign	0.00
Z1191:4933427D14Rik	UTSW	11	72,198,482 (GRCm38)	missense	probably benign	0.13
Z1191:4933427D14Rik	UTSW	11	72,195,769 (GRCm38)	missense	probably damaging	1.00
Z1191:4933427D14Rik	UTSW	11	72,195,764 (GRCm38)	frame shift	probably null
Z1191:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
Z1191:4933427D14Rik	UTSW	11	72,195,743 (GRCm38)	missense	possibly damaging	0.73
Z1191:4933427D14Rik	UTSW	11	72,195,712 (GRCm38)	frame shift	probably null
Z1191:4933427D14Rik	UTSW	11	72,189,616 (GRCm38)	missense	probably damaging	1.00
Z1191:4933427D14Rik	UTSW	11	72,176,709 (GRCm38)	missense	possibly damaging	0.73
Z1191:4933427D14Rik	UTSW	11	72,198,924 (GRCm38)	missense	probably damaging	1.00
Z1191:4933427D14Rik	UTSW	11	72,198,534 (GRCm38)	missense	probably benign	0.00
Z1192:4933427D14Rik	UTSW	11	72,198,482 (GRCm38)	missense	probably benign	0.13
Z1192:4933427D14Rik	UTSW	11	72,195,769 (GRCm38)	missense	probably damaging	1.00
Z1192:4933427D14Rik	UTSW	11	72,195,764 (GRCm38)	frame shift	probably null
Z1192:4933427D14Rik	UTSW	11	72,195,754 (GRCm38)	missense	probably damaging	1.00
Z1192:4933427D14Rik	UTSW	11	72,195,743 (GRCm38)	missense	possibly damaging	0.73
Z1192:4933427D14Rik	UTSW	11	72,195,712 (GRCm38)	frame shift	probably null
Z1192:4933427D14Rik	UTSW	11	72,189,616 (GRCm38)	missense	probably damaging	1.00
Z1192:4933427D14Rik	UTSW	11	72,176,709 (GRCm38)	missense	possibly damaging	0.73
Z1192:4933427D14Rik	UTSW	11	72,198,924 (GRCm38)	missense	probably damaging	1.00
Z1192:4933427D14Rik	UTSW	11	72,198,534 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCACAGTAAGATCAGCTCGTC -3'
(R):5'- TTGGCAGTCCGGTACTCTTG -3'

Sequencing Primer
(F):5'- TAAGATCAGCTCGTCCTGGCTG -3'
(R):5'- GGTACTCTTGCCCACATGG -3'

Posted On

2015-04-30