Mutagenetix > Incidental Mutation

Incidental Mutation 'R1634:D430041D05Rik'

172958

Institutional Source

Beutler Lab

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

MMRRC Submission

039671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.236) question?

Stock #

R1634 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

103973418-104241358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 104051556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 767 (I767T)

Ref Sequence

ENSEMBL: ENSMUSP00000155023 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000230671]

AlphaFold

A0A2R8VKG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000089726
AA Change: I767T

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

SMART Domains

Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: I767T

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC
low complexity region	206	215	N/A	INTRINSIC
low complexity region	218	230	N/A	INTRINSIC
low complexity region	234	253	N/A	INTRINSIC
Pfam:DUF3827	498	1134	2.4e-282	PFAM
low complexity region	1196	1217	N/A	INTRINSIC
low complexity region	1331	1351	N/A	INTRINSIC
low complexity region	1360	1372	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136156
AA Change: I767T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000141159
AA Change: I652T

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: I652T

Domain	Start	End	E-Value	Type
low complexity region	55	70	N/A	INTRINSIC
low complexity region	91	100	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC
low complexity region	119	138	N/A	INTRINSIC
Pfam:DUF3827	383	1020	8.2e-280	PFAM
low complexity region	1082	1103	N/A	INTRINSIC
low complexity region	1217	1237	N/A	INTRINSIC
low complexity region	1246	1258	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156278

Predicted Effect

probably damaging
Transcript: ENSMUST00000230671
AA Change: I1451T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Meta Mutation Damage Score

0.1733

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.4%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,295,180 (GRCm39)	F222I	probably damaging	Het
Adam34	A	T	8: 44,105,127 (GRCm39)	C173S	possibly damaging	Het
Ahi1	T	C	10: 20,841,592 (GRCm39)	V293A	probably damaging	Het
AI182371	A	T	2: 34,976,497 (GRCm39)	Y223N	probably damaging	Het
Asmt	C	A	X: 169,109,564 (GRCm39)	F181L	probably damaging	Het
Axin1	T	A	17: 26,406,965 (GRCm39)	H519Q	probably damaging	Het
Cdc5l	A	T	17: 45,715,632 (GRCm39)	V660E	probably damaging	Het
Cep152	C	T	2: 125,425,809 (GRCm39)	R852H	probably benign	Het
Cpne4	T	C	9: 104,866,778 (GRCm39)	V230A	possibly damaging	Het
Cttnbp2	A	T	6: 18,408,656 (GRCm39)	N988K	probably benign	Het
Dgki	A	G	6: 36,892,425 (GRCm39)	M851T	probably benign	Het
Dnah8	T	C	17: 30,932,072 (GRCm39)		probably null	Het
Dscaml1	A	G	9: 45,584,047 (GRCm39)	E504G	probably damaging	Het
Dzank1	G	A	2: 144,323,589 (GRCm39)	A618V	probably benign	Het
Entrep3	A	C	3: 89,095,401 (GRCm39)	Y511S	probably damaging	Het
Fat2	T	A	11: 55,158,510 (GRCm39)	S3403C	probably damaging	Het
Fat2	C	T	11: 55,175,545 (GRCm39)	V1723I	probably benign	Het
Flt1	A	T	5: 147,613,240 (GRCm39)	F334I	probably damaging	Het
Galnt12	G	T	4: 47,108,585 (GRCm39)		probably null	Het
Gzmc	T	C	14: 56,469,737 (GRCm39)	I188V	possibly damaging	Het
Herc1	T	C	9: 66,380,820 (GRCm39)	S3566P	possibly damaging	Het
Hoxb4	C	A	11: 96,211,099 (GRCm39)		probably benign	Het
Idh3b	C	T	2: 130,123,665 (GRCm39)	V141I	probably benign	Het
Kif24	A	G	4: 41,393,529 (GRCm39)	S1249P	probably benign	Het
Leo1	T	C	9: 75,373,542 (GRCm39)	Y656H	possibly damaging	Het
Map3k20	G	A	2: 72,240,521 (GRCm39)	W339*	probably null	Het
Map3k5	T	C	10: 20,012,657 (GRCm39)	V1259A	possibly damaging	Het
Masp2	A	G	4: 148,698,812 (GRCm39)	D631G	probably damaging	Het
Mink1	T	C	11: 70,499,706 (GRCm39)	S713P	probably benign	Het
Mpp7	A	T	18: 7,350,984 (GRCm39)	V571E	possibly damaging	Het
Nell1	A	G	7: 50,498,306 (GRCm39)	D574G	possibly damaging	Het
Obscn	T	C	11: 58,967,722 (GRCm39)	Y392C	probably damaging	Het
Odad2	A	G	18: 7,286,688 (GRCm39)	L181P	probably damaging	Het
Olfml2a	A	T	2: 38,850,231 (GRCm39)	Y649F	probably benign	Het
Or1f19	A	G	16: 3,411,073 (GRCm39)	D271G	probably benign	Het
Or4k45	T	C	2: 111,395,691 (GRCm39)	M33V	probably benign	Het
Prkcg	A	G	7: 3,371,986 (GRCm39)	D484G	probably damaging	Het
Rab27a	T	C	9: 72,982,851 (GRCm39)		probably null	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rgl1	C	T	1: 152,400,523 (GRCm39)	R624H	probably damaging	Het
Ric8b	G	A	10: 84,806,612 (GRCm39)	G159D	probably damaging	Het
Sbno2	C	A	10: 79,896,468 (GRCm39)	A880S	possibly damaging	Het
Scn9a	A	G	2: 66,318,361 (GRCm39)	S1477P	probably damaging	Het
Sec22a	T	C	16: 35,139,243 (GRCm39)		probably benign	Het
Snx14	T	C	9: 88,267,792 (GRCm39)	I714M	probably benign	Het
Snx14	T	C	9: 88,289,543 (GRCm39)		probably benign	Het
Sphk2	T	A	7: 45,360,964 (GRCm39)	T347S	probably benign	Het
Spns1	C	T	7: 125,970,343 (GRCm39)		probably benign	Het
Susd2	A	G	10: 75,473,389 (GRCm39)	V675A	probably benign	Het
Sytl2	A	T	7: 90,044,390 (GRCm39)	D566V	probably damaging	Het
Tcf25	T	A	8: 124,123,830 (GRCm39)	I464N	possibly damaging	Het
Tex261	A	T	6: 83,752,004 (GRCm39)	I49N	possibly damaging	Het
Tjp1	A	G	7: 64,952,700 (GRCm39)	F1545L	possibly damaging	Het
Tmem176b	A	G	6: 48,811,500 (GRCm39)	S216P	probably damaging	Het
Topaz1	C	T	9: 122,609,740 (GRCm39)		probably benign	Het
Tra2a	C	T	6: 49,227,891 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,553,126 (GRCm39)	F22794S	possibly damaging	Het
Uox	G	A	3: 146,318,138 (GRCm39)	W93*	probably null	Het
Zan	A	T	5: 137,411,052 (GRCm39)		probably benign	Het
Zfp106	G	A	2: 120,364,158 (GRCm39)	R750*	probably null	Het
Zfp638	A	T	6: 83,956,894 (GRCm39)		probably null	Het

Other mutations in D430041D05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:D430041D05Rik	APN	2	104,031,648 (GRCm39)	missense	probably damaging	1.00
IGL01114:D430041D05Rik	APN	2	104,088,511 (GRCm39)	nonsense	probably null
IGL01669:D430041D05Rik	APN	2	104,085,306 (GRCm39)	missense	probably damaging	1.00
IGL02015:D430041D05Rik	APN	2	104,060,749 (GRCm39)	missense	probably damaging	1.00
IGL02037:D430041D05Rik	APN	2	104,038,559 (GRCm39)	splice site	probably benign
IGL02268:D430041D05Rik	APN	2	104,071,500 (GRCm39)	missense	possibly damaging	0.80
IGL02294:D430041D05Rik	APN	2	104,085,351 (GRCm39)	missense	probably benign	0.42
IGL02457:D430041D05Rik	APN	2	104,079,690 (GRCm39)	missense	probably damaging	0.99
IGL02601:D430041D05Rik	APN	2	104,060,631 (GRCm39)	missense	probably damaging	0.99
IGL02647:D430041D05Rik	APN	2	104,078,611 (GRCm39)	missense	probably damaging	1.00
IGL02679:D430041D05Rik	APN	2	104,060,650 (GRCm39)	missense	possibly damaging	0.80
IGL02926:D430041D05Rik	APN	2	104,044,604 (GRCm39)	missense	probably damaging	1.00
IGL03171:D430041D05Rik	APN	2	104,071,508 (GRCm39)	missense	possibly damaging	0.95
IGL03178:D430041D05Rik	APN	2	104,051,556 (GRCm39)	missense	probably damaging	1.00
IGL03371:D430041D05Rik	APN	2	104,078,719 (GRCm39)	missense	probably damaging	1.00
R0027:D430041D05Rik	UTSW	2	104,085,389 (GRCm39)	missense	probably benign
R0064:D430041D05Rik	UTSW	2	104,079,502 (GRCm39)	missense	probably damaging	1.00
R0135:D430041D05Rik	UTSW	2	104,085,379 (GRCm39)	missense	possibly damaging	0.60
R0227:D430041D05Rik	UTSW	2	104,035,545 (GRCm39)	missense	possibly damaging	0.85
R0265:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0268:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0282:D430041D05Rik	UTSW	2	104,031,589 (GRCm39)	missense	probably damaging	1.00
R0366:D430041D05Rik	UTSW	2	104,085,685 (GRCm39)	missense	probably damaging	0.99
R0402:D430041D05Rik	UTSW	2	103,998,509 (GRCm39)	missense	probably damaging	0.99
R0436:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0441:D430041D05Rik	UTSW	2	103,998,292 (GRCm39)	missense	probably damaging	1.00
R0540:D430041D05Rik	UTSW	2	104,063,790 (GRCm39)	missense	probably damaging	1.00
R0607:D430041D05Rik	UTSW	2	104,063,790 (GRCm39)	missense	probably damaging	1.00
R0613:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0626:D430041D05Rik	UTSW	2	103,998,295 (GRCm39)	missense	probably damaging	1.00
R0747:D430041D05Rik	UTSW	2	104,060,651 (GRCm39)	missense	probably damaging	1.00
R0864:D430041D05Rik	UTSW	2	104,060,773 (GRCm39)	missense	possibly damaging	0.78
R0980:D430041D05Rik	UTSW	2	104,079,690 (GRCm39)	missense	probably damaging	0.99
R1014:D430041D05Rik	UTSW	2	104,088,674 (GRCm39)	missense	possibly damaging	0.94
R1254:D430041D05Rik	UTSW	2	104,031,648 (GRCm39)	missense	probably damaging	1.00
R1364:D430041D05Rik	UTSW	2	103,985,363 (GRCm39)	missense	possibly damaging	0.93
R1456:D430041D05Rik	UTSW	2	104,038,428 (GRCm39)	missense	probably damaging	1.00
R1574:D430041D05Rik	UTSW	2	104,051,553 (GRCm39)	small deletion	probably benign
R1604:D430041D05Rik	UTSW	2	104,035,487 (GRCm39)	missense	probably damaging	1.00
R1605:D430041D05Rik	UTSW	2	104,085,915 (GRCm39)	missense	possibly damaging	0.46
R1623:D430041D05Rik	UTSW	2	103,983,308 (GRCm39)	missense	probably damaging	1.00
R1834:D430041D05Rik	UTSW	2	103,998,446 (GRCm39)	missense	probably damaging	1.00
R1885:D430041D05Rik	UTSW	2	104,060,800 (GRCm39)	missense	probably benign	0.39
R2080:D430041D05Rik	UTSW	2	103,987,161 (GRCm39)	missense	probably damaging	1.00
R2101:D430041D05Rik	UTSW	2	103,979,175 (GRCm39)	missense	probably damaging	1.00
R2240:D430041D05Rik	UTSW	2	103,987,161 (GRCm39)	missense	probably damaging	1.00
R2923:D430041D05Rik	UTSW	2	104,085,660 (GRCm39)	missense	possibly damaging	0.94
R3751:D430041D05Rik	UTSW	2	104,085,403 (GRCm39)	missense	possibly damaging	0.94
R3862:D430041D05Rik	UTSW	2	104,044,522 (GRCm39)	missense	possibly damaging	0.54
R3863:D430041D05Rik	UTSW	2	104,044,522 (GRCm39)	missense	possibly damaging	0.54
R3864:D430041D05Rik	UTSW	2	104,044,522 (GRCm39)	missense	possibly damaging	0.54
R3949:D430041D05Rik	UTSW	2	104,087,713 (GRCm39)	missense	probably benign	0.02
R4493:D430041D05Rik	UTSW	2	104,086,684 (GRCm39)	missense	probably benign	0.02
R4526:D430041D05Rik	UTSW	2	104,022,778 (GRCm39)	critical splice donor site	probably null
R4592:D430041D05Rik	UTSW	2	104,063,824 (GRCm39)	missense	possibly damaging	0.89
R4598:D430041D05Rik	UTSW	2	104,038,528 (GRCm39)	missense	probably damaging	0.99
R4599:D430041D05Rik	UTSW	2	104,038,528 (GRCm39)	missense	probably damaging	0.99
R4647:D430041D05Rik	UTSW	2	104,088,788 (GRCm39)	missense	probably damaging	0.99
R4765:D430041D05Rik	UTSW	2	104,044,441 (GRCm39)	missense	probably damaging	1.00
R4808:D430041D05Rik	UTSW	2	104,031,455 (GRCm39)	critical splice donor site	probably null
R4868:D430041D05Rik	UTSW	2	104,085,754 (GRCm39)	missense	possibly damaging	0.73
R4982:D430041D05Rik	UTSW	2	104,085,732 (GRCm39)	missense	possibly damaging	0.46
R5144:D430041D05Rik	UTSW	2	104,088,847 (GRCm39)	missense	probably damaging	0.99
R5255:D430041D05Rik	UTSW	2	104,086,945 (GRCm39)	missense	probably benign	0.26
R5356:D430041D05Rik	UTSW	2	104,085,754 (GRCm39)	missense	probably damaging	0.99
R5368:D430041D05Rik	UTSW	2	104,078,629 (GRCm39)	missense	probably damaging	0.99
R5963:D430041D05Rik	UTSW	2	104,078,630 (GRCm39)	missense	possibly damaging	0.66
R5993:D430041D05Rik	UTSW	2	103,998,412 (GRCm39)	missense	probably damaging	1.00
R6122:D430041D05Rik	UTSW	2	104,086,637 (GRCm39)	missense	probably benign	0.01
R6410:D430041D05Rik	UTSW	2	103,998,548 (GRCm39)	splice site	probably null
R6804:D430041D05Rik	UTSW	2	103,979,371 (GRCm39)	missense	possibly damaging	0.85
R6850:D430041D05Rik	UTSW	2	104,031,604 (GRCm39)	missense	probably damaging	1.00
R6853:D430041D05Rik	UTSW	2	104,071,500 (GRCm39)	missense	probably damaging	1.00
R7034:D430041D05Rik	UTSW	2	104,022,883 (GRCm39)	missense	probably damaging	0.99
R7146:D430041D05Rik	UTSW	2	104,088,698 (GRCm39)	missense	probably benign	0.06
R7250:D430041D05Rik	UTSW	2	104,086,961 (GRCm39)	missense	possibly damaging	0.92
R7251:D430041D05Rik	UTSW	2	104,051,511 (GRCm39)	missense	probably damaging	1.00
R7313:D430041D05Rik	UTSW	2	104,085,910 (GRCm39)	missense	probably benign
R7359:D430041D05Rik	UTSW	2	104,044,482 (GRCm39)	missense	probably damaging	1.00
R7361:D430041D05Rik	UTSW	2	104,085,363 (GRCm39)	missense	possibly damaging	0.46
R7436:D430041D05Rik	UTSW	2	104,087,447 (GRCm39)	missense	probably benign	0.02
R7472:D430041D05Rik	UTSW	2	104,240,484 (GRCm39)	missense	unknown
R7492:D430041D05Rik	UTSW	2	104,031,650 (GRCm39)	missense	probably damaging	1.00
R7631:D430041D05Rik	UTSW	2	103,979,363 (GRCm39)	nonsense	probably null
R7672:D430041D05Rik	UTSW	2	104,071,581 (GRCm39)	missense	probably benign	0.01
R7721:D430041D05Rik	UTSW	2	104,088,874 (GRCm39)	missense	probably benign	0.00
R7754:D430041D05Rik	UTSW	2	104,087,504 (GRCm39)	missense	probably benign	0.01
R7882:D430041D05Rik	UTSW	2	104,087,974 (GRCm39)	nonsense	probably null
R7896:D430041D05Rik	UTSW	2	104,088,385 (GRCm39)	missense	probably benign	0.05
R7986:D430041D05Rik	UTSW	2	104,087,096 (GRCm39)	missense	probably damaging	1.00
R8005:D430041D05Rik	UTSW	2	104,088,599 (GRCm39)	missense	possibly damaging	0.72
R8016:D430041D05Rik	UTSW	2	104,022,864 (GRCm39)	missense	probably damaging	1.00
R8054:D430041D05Rik	UTSW	2	103,985,390 (GRCm39)	missense	possibly damaging	0.93
R8058:D430041D05Rik	UTSW	2	103,979,128 (GRCm39)	makesense	probably null
R8100:D430041D05Rik	UTSW	2	104,087,287 (GRCm39)	missense	probably benign	0.00
R8461:D430041D05Rik	UTSW	2	103,998,280 (GRCm39)	missense	possibly damaging	0.46
R8695:D430041D05Rik	UTSW	2	104,085,299 (GRCm39)	critical splice donor site	probably null
R8885:D430041D05Rik	UTSW	2	104,071,538 (GRCm39)	missense	probably damaging	1.00
R9007:D430041D05Rik	UTSW	2	104,087,930 (GRCm39)	missense	probably benign	0.08
R9009:D430041D05Rik	UTSW	2	104,240,521 (GRCm39)	start gained	probably benign
R9335:D430041D05Rik	UTSW	2	104,078,674 (GRCm39)	missense	probably damaging	1.00
R9348:D430041D05Rik	UTSW	2	104,088,337 (GRCm39)	missense	probably benign	0.05
R9384:D430041D05Rik	UTSW	2	104,087,920 (GRCm39)	missense	probably benign
R9483:D430041D05Rik	UTSW	2	104,087,563 (GRCm39)	missense	probably benign	0.44
R9489:D430041D05Rik	UTSW	2	104,087,189 (GRCm39)	missense	probably benign	0.20
R9605:D430041D05Rik	UTSW	2	104,087,189 (GRCm39)	missense	probably benign	0.20
R9613:D430041D05Rik	UTSW	2	104,060,737 (GRCm39)	missense	probably benign	0.09
R9698:D430041D05Rik	UTSW	2	103,985,396 (GRCm39)	missense	probably damaging	1.00
X0024:D430041D05Rik	UTSW	2	104,022,911 (GRCm39)	critical splice acceptor site	probably null
Z1176:D430041D05Rik	UTSW	2	104,087,201 (GRCm39)	missense	probably benign	0.00
Z1176:D430041D05Rik	UTSW	2	103,985,280 (GRCm39)	missense	probably damaging	1.00
Z1177:D430041D05Rik	UTSW	2	104,071,536 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AACGAGGCTGTGATGATGTTCCTG -3'
(R):5'- GCTCGTGTCAACTGATCCTCTGTG -3'

Sequencing Primer
(F):5'- TCCATGCCCACATGTACCTT -3'
(R):5'- acctcttgtgtccttgcc -3'

Posted On

2014-04-24