Mutagenetix > Incidental Mutation

Incidental Mutation 'R5271:1700003H04Rik'

400274

Institutional Source

Beutler Lab

Gene Symbol

1700003H04Rik

Ensembl Gene

ENSMUSG00000039174

Gene Name

RIKEN cDNA 1700003H04 gene

Synonyms

MMRRC Submission

042861-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R5271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124359540-124374740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124373496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 33 (K33R)

Ref Sequence

ENSEMBL: ENSMUSP00000136955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047110] [ENSMUST00000178485] [ENSMUST00000178953] [ENSMUST00000180033] [ENSMUST00000180162]

AlphaFold

E9PXM2

Predicted Effect

probably benign
Transcript: ENSMUST00000047110
AA Change: K33R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: K33R

Domain	Start	End	E-Value	Type
SCOP:d1kz7a2	7	68	4e-4	SMART
Blast:PH	18	114	4e-35	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177772

Predicted Effect

probably benign
Transcript: ENSMUST00000178485
AA Change: K33R

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000136984
Gene: ENSMUSG00000039174
AA Change: K33R

Domain	Start	End	E-Value	Type
SCOP:d1kz7a2	7	68	2e-4	SMART
Blast:PH	18	99	2e-54	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178953
AA Change: K33R

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136955
Gene: ENSMUSG00000039174
AA Change: K33R

Domain	Start	End	E-Value	Type
Blast:PH	18	91	3e-16	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000180033
AA Change: K33R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136217
Gene: ENSMUSG00000039174
AA Change: K33R

Domain	Start	End	E-Value	Type
PH	18	119	1.53e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180162
AA Change: K33R

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174
AA Change: K33R

Domain	Start	End	E-Value	Type
SCOP:d1kz7a2	7	117	2e-7	SMART
Blast:PH	18	115	1e-67	BLAST

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.6%
20x: 93.6%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4632415L05Rik	C	T	3: 19,949,311 (GRCm39)		noncoding transcript	Het
4930542C16Rik	A	C	14: 24,665,598 (GRCm39)		noncoding transcript	Het
Adprh	A	T	16: 38,266,416 (GRCm39)	L242*	probably null	Het
Anapc1	G	A	2: 128,527,905 (GRCm39)	Q18*	probably null	Het
Bfar	T	C	16: 13,510,261 (GRCm39)		probably benign	Het
Bmp1	T	C	14: 70,745,568 (GRCm39)	I206V	probably benign	Het
Cc2d1b	T	A	4: 108,480,826 (GRCm39)		probably benign	Het
Clock	A	G	5: 76,389,801 (GRCm39)	I349T	probably damaging	Het
Cox11	A	G	11: 90,534,558 (GRCm39)	Y60C	probably damaging	Het
Cyp1a1	G	A	9: 57,610,121 (GRCm39)	V512M	probably benign	Het
Dcdc2a	T	C	13: 25,371,671 (GRCm39)	F311S	probably benign	Het
Dnase1l3	T	C	14: 7,993,843 (GRCm38)	D48G	probably damaging	Het
Engase	G	T	11: 118,372,223 (GRCm39)	A172S	probably damaging	Het
F2	T	C	2: 91,465,466 (GRCm39)		probably benign	Het
Galnt2l	A	G	8: 122,997,872 (GRCm39)		probably benign	Het
Gcc2	T	C	10: 58,105,517 (GRCm39)	V215A	possibly damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm20671	T	C	5: 32,977,303 (GRCm39)	K1817R	possibly damaging	Het
Gm20939	T	A	17: 95,184,583 (GRCm39)	Y410*	probably null	Het
Gm27013	T	C	6: 130,653,878 (GRCm39)	Y528C	probably damaging	Het
Il23r	T	C	6: 67,400,680 (GRCm39)	H550R	probably benign	Het
Iqgap1	A	T	7: 80,383,896 (GRCm39)	V1056E	probably damaging	Het
Lrit3	T	A	3: 129,581,950 (GRCm39)	Y679F	probably damaging	Het
Megf8	A	T	7: 25,041,131 (GRCm39)	E1120V	probably damaging	Het
Mta1	A	G	12: 113,095,577 (GRCm39)	E518G	probably damaging	Het
Myo9a	A	G	9: 59,814,665 (GRCm39)	I2200M	probably damaging	Het
Ncoa7	T	C	10: 30,598,725 (GRCm39)	H66R	probably benign	Het
Ncor1	A	G	11: 62,231,371 (GRCm39)	V812A	probably damaging	Het
Ndnf	T	C	6: 65,680,650 (GRCm39)	Y310H	possibly damaging	Het
Ndst1	G	A	18: 60,838,204 (GRCm39)	T347I	probably benign	Het
Or10a3m	T	C	7: 108,313,424 (GRCm39)	L276S	probably damaging	Het
Or4c15b	A	T	2: 89,113,297 (GRCm39)	F60Y	probably benign	Het
Pcdhb10	C	A	18: 37,546,222 (GRCm39)	Q433K	probably benign	Het
Pcdhb18	G	A	18: 37,624,649 (GRCm39)	V660M	possibly damaging	Het
Pds5b	T	A	5: 150,646,818 (GRCm39)	N202K	possibly damaging	Het
Pira12	A	T	7: 3,900,566 (GRCm39)	Y61*	probably null	Het
Polk	T	C	13: 96,620,047 (GRCm39)	S718G	probably benign	Het
Ptpdc1	T	C	13: 48,744,174 (GRCm39)	D149G	probably damaging	Het
Rb1cc1	T	A	1: 6,319,417 (GRCm39)	C35*	probably null	Het
Samd9l	C	T	6: 3,376,156 (GRCm39)	M368I	probably benign	Het
Shroom3	T	C	5: 93,110,107 (GRCm39)	M1739T	probably damaging	Het
Slc18a3	A	G	14: 32,185,705 (GRCm39)	L226P	probably damaging	Het
St7l	A	T	3: 104,775,376 (GRCm39)	Y84F	probably damaging	Het
Svil	A	T	18: 5,062,329 (GRCm39)	N392I	probably benign	Het
Syngr1	T	A	15: 79,982,240 (GRCm39)	M9K	probably benign	Het
Taar2	T	C	10: 23,816,930 (GRCm39)	S157P	probably damaging	Het
Tagap1	G	T	17: 7,223,495 (GRCm39)	Y400*	probably null	Het
Tbc1d8	T	A	1: 39,412,848 (GRCm39)	E976V	probably damaging	Het
Tmem163	G	A	1: 127,419,289 (GRCm39)		probably benign	Het
Tnfaip2	A	G	12: 111,414,894 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,536,861 (GRCm39)	S34988N	possibly damaging	Het
Tubg1	T	G	11: 101,011,064 (GRCm39)	N15K	probably damaging	Het
Unc93a2	T	C	17: 7,637,081 (GRCm39)	N149S	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zap70	T	A	1: 36,820,446 (GRCm39)	V547D	probably damaging	Het
Zfp146	G	T	7: 29,861,900 (GRCm39)	N47K	probably benign	Het
Znrf1	T	G	8: 112,335,976 (GRCm39)	M159R	probably benign	Het

Other mutations in 1700003H04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01451:1700003H04Rik	APN	3	124,373,527 (GRCm39)	missense	possibly damaging	0.83
IGL01640:1700003H04Rik	APN	3	124,373,587 (GRCm39)	missense	probably damaging	0.99
IGL03240:1700003H04Rik	APN	3	124,350,365 (GRCm39)	utr 3 prime	probably benign
R1513:1700003H04Rik	UTSW	3	124,368,985 (GRCm39)	missense	possibly damaging	0.91
R1537:1700003H04Rik	UTSW	3	124,372,124 (GRCm39)	missense	possibly damaging	0.66
R1832:1700003H04Rik	UTSW	3	124,350,509 (GRCm39)	missense	unknown
R1833:1700003H04Rik	UTSW	3	124,350,509 (GRCm39)	missense	unknown
R1872:1700003H04Rik	UTSW	3	124,350,493 (GRCm39)	missense	unknown
R2993:1700003H04Rik	UTSW	3	124,372,184 (GRCm39)	missense	probably damaging	1.00
R4118:1700003H04Rik	UTSW	3	124,373,503 (GRCm39)	missense	possibly damaging	0.92
R5911:1700003H04Rik	UTSW	3	124,350,380 (GRCm39)	utr 3 prime	probably benign
R7479:1700003H04Rik	UTSW	3	124,372,142 (GRCm39)	missense	probably benign	0.00
R7573:1700003H04Rik	UTSW	3	124,366,917 (GRCm39)	missense
R7995:1700003H04Rik	UTSW	3	124,350,528 (GRCm39)	missense	unknown
R9532:1700003H04Rik	UTSW	3	124,350,397 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGTATTCTCCACAGGAGTAGACAG -3'
(R):5'- GAAACTGGCTTTAGCAATTGAGAC -3'

Sequencing Primer
(F):5'- GAGTAGACAGCAAAAACAGACCTTTC -3'
(R):5'- ACATGTCAACCTTTAAATTTAGCATG -3'

Posted On

2016-07-06