Mutagenetix > Incidental Mutation

Incidental Mutation 'R0366:D430041D05Rik'

36395

Institutional Source

Beutler Lab

Gene Symbol

D430041D05Rik

Ensembl Gene

ENSMUSG00000068373

Gene Name

RIKEN cDNA D430041D05 gene

Synonyms

MMRRC Submission

038572-MU

Accession Numbers

Essential gene?

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

Stock #

R0366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103973418-104241358 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 104085685 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 955 (H955Y)

Ref Sequence

ENSEMBL: ENSMUSP00000155485 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089726] [ENSMUST00000136156] [ENSMUST00000141159] [ENSMUST00000149466] [ENSMUST00000230671]

AlphaFold

A0A2R8VKG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089726
AA Change: H271Y

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106756
Gene: ENSMUSG00000068373
AA Change: H271Y

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: H271Y

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000139015

SMART Domains

Protein: ENSMUSP00000124519
Gene: ENSMUSG00000068373

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	150	159	N/A	INTRINSIC
low complexity region	162	174	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141159
AA Change: H156Y

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117041
Gene: ENSMUSG00000068373
AA Change: H156Y

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

possibly damaging
Transcript: ENSMUST00000149466
AA Change: H99Y

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124980
Gene: ENSMUSG00000068373
AA Change: H99Y

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	34	43	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
low complexity region	62	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150450

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151310

Predicted Effect

probably damaging
Transcript: ENSMUST00000230671
AA Change: H955Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Meta Mutation Damage Score

0.3079

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.1%
20x: 91.9%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	G	T	17: 46,635,724 (GRCm39)	S93*	probably null	Het
Ackr2	T	C	9: 121,738,426 (GRCm39)	L267P	probably damaging	Het
Adgre4	T	A	17: 56,099,001 (GRCm39)	L169*	probably null	Het
Ankrd12	T	A	17: 66,291,501 (GRCm39)	S1311C	possibly damaging	Het
Arid2	T	A	15: 96,259,601 (GRCm39)		probably benign	Het
Atp9b	A	T	18: 80,805,317 (GRCm39)	V747E	probably damaging	Het
Best1	T	C	19: 9,969,417 (GRCm39)		probably null	Het
Brwd1	C	A	16: 95,839,164 (GRCm39)	E836*	probably null	Het
Cachd1	A	G	4: 100,851,934 (GRCm39)	S1177G	possibly damaging	Het
Cacna1e	C	T	1: 154,291,884 (GRCm39)	E1766K	probably benign	Het
Cckar	A	G	5: 53,857,507 (GRCm39)	I301T	probably benign	Het
Cdc27	T	G	11: 104,396,474 (GRCm39)	T816P	probably damaging	Het
Cep162	T	G	9: 87,102,537 (GRCm39)	Q708H	probably damaging	Het
Cep250	C	A	2: 155,830,321 (GRCm39)	D1301E	probably benign	Het
Dcdc2a	T	A	13: 25,240,417 (GRCm39)	V55E	probably damaging	Het
Efcab12	A	G	6: 115,800,209 (GRCm39)		probably benign	Het
Ep400	A	G	5: 110,849,537 (GRCm39)	V1428A	unknown	Het
Erbb3	T	C	10: 128,408,439 (GRCm39)	E825G	possibly damaging	Het
Evl	A	T	12: 108,652,307 (GRCm39)		probably null	Het
Fuca2	G	A	10: 13,381,507 (GRCm39)	R140H	probably benign	Het
Gm5581	T	C	6: 131,143,410 (GRCm39)		noncoding transcript	Het
Gm7052	T	C	17: 22,259,498 (GRCm39)		probably benign	Het
Gpd1	T	G	15: 99,617,151 (GRCm39)	I119S	probably damaging	Het
Gzmc	A	T	14: 56,470,193 (GRCm39)	Y101*	probably null	Het
Hmcn2	G	T	2: 31,314,218 (GRCm39)	A3588S	possibly damaging	Het
Ikbkb	A	G	8: 23,185,276 (GRCm39)		probably benign	Het
Itgax	G	T	7: 127,748,261 (GRCm39)		probably benign	Het
Kif24	C	A	4: 41,428,717 (GRCm39)	S81I	possibly damaging	Het
Lct	G	A	1: 128,214,199 (GRCm39)	P1858S	probably benign	Het
Map2k1	C	A	9: 64,100,984 (GRCm39)		probably null	Het
Mdga1	A	G	17: 30,076,682 (GRCm39)	V30A	possibly damaging	Het
Meiosin	T	A	7: 18,840,964 (GRCm39)	I57F	probably damaging	Het
Mtcl1	G	A	17: 66,645,124 (GRCm39)	P1441L	probably damaging	Het
N4bp2	T	A	5: 65,963,739 (GRCm39)	F596Y	possibly damaging	Het
Notch4	A	T	17: 34,800,473 (GRCm39)		probably benign	Het
Or2l5	A	G	16: 19,333,598 (GRCm39)	S263P	probably benign	Het
Or4c12	A	C	2: 89,774,162 (GRCm39)	V99G	possibly damaging	Het
Or6c1	A	G	10: 129,517,840 (GRCm39)	M256T	possibly damaging	Het
Or8b44	T	A	9: 38,410,450 (GRCm39)	C162S	possibly damaging	Het
Or8k25	A	G	2: 86,244,369 (GRCm39)	V9A	possibly damaging	Het
Pbld2	A	G	10: 62,889,736 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,808,460 (GRCm39)	Y505C	probably damaging	Het
Plcb2	A	G	2: 118,554,928 (GRCm39)	F58L	probably benign	Het
Plcd1	T	A	9: 118,910,204 (GRCm39)	I72F	probably damaging	Het
Ppp5c	A	T	7: 16,756,508 (GRCm39)	Y63*	probably null	Het
Prdm4	T	C	10: 85,743,868 (GRCm39)	D129G	probably damaging	Het
Prkcq	C	A	2: 11,251,649 (GRCm39)		probably benign	Het
Rab5b	C	T	10: 128,518,772 (GRCm39)	R120Q	probably benign	Het
Rab7b	T	A	1: 131,626,242 (GRCm39)	V90D	probably damaging	Het
Ripk3	T	C	14: 56,024,292 (GRCm39)	T193A	probably damaging	Het
Rnf167	C	T	11: 70,540,143 (GRCm39)	R88*	probably null	Het
Robo1	A	G	16: 72,539,133 (GRCm39)	T59A	possibly damaging	Het
Scd2	G	A	19: 44,289,685 (GRCm39)	V227I	probably benign	Het
Scg3	T	A	9: 75,582,620 (GRCm39)		probably benign	Het
Sec31a	A	T	5: 100,530,625 (GRCm39)	L677H	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Setd7	T	C	3: 51,457,741 (GRCm39)	T29A	probably benign	Het
Shoc1	A	C	4: 59,099,410 (GRCm39)	M94R	probably benign	Het
Slc4a5	A	G	6: 83,272,854 (GRCm39)	Y942C	probably benign	Het
Slit1	T	A	19: 41,599,470 (GRCm39)	Y1027F	probably damaging	Het
Sptan1	G	A	2: 29,882,764 (GRCm39)		probably null	Het
Tdrd12	T	C	7: 35,208,227 (GRCm39)	Q249R	probably benign	Het
Tmem171	T	A	13: 98,828,736 (GRCm39)	D138V	possibly damaging	Het
Ttll10	G	A	4: 156,119,612 (GRCm39)	R596W	probably damaging	Het
Usp53	G	T	3: 122,742,850 (GRCm39)	N695K	probably damaging	Het
Vmn2r25	A	T	6: 123,800,581 (GRCm39)	L587*	probably null	Het
Zglp1	C	T	9: 20,974,675 (GRCm39)	C171Y	probably benign	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
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
R1634:D430041D05Rik	UTSW	2	104,051,556 (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'- AGCCGGAAAAGCAGCATCTGTG -3'
(R):5'- TCTGAGAAGATCAAGTCCAGCGCC -3'

Sequencing Primer
(F):5'- TCTGTAAAGATGGCAGCCTC -3'
(R):5'- AAGTCCAGCGCCACTGTC -3'

Posted On

2013-05-09