Mutagenetix > Incidental Mutation

Incidental Mutation 'R9532:1700003H04Rik'

719512

Institutional Source

Beutler Lab

Gene Symbol

1700003H04Rik

Ensembl Gene

ENSMUSG00000039174

Gene Name

RIKEN cDNA 1700003H04 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R9532 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124359540-124374740 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124350397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 165 (N165S)

Ref Sequence

ENSEMBL: ENSMUSP00000035388 (fasta)

Gene Model

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

AlphaFold

E9PXM2

Predicted Effect

unknown
Transcript: ENSMUST00000047110
AA Change: N165S

SMART Domains

Protein: ENSMUSP00000035388
Gene: ENSMUSG00000039174
AA Change: N165S

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: ENSMUST00000180162

SMART Domains

Protein: ENSMUSP00000137342
Gene: ENSMUSG00000039174

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	C	A	4: 122,596,133 (GRCm39)	N121K	unknown	Het
Abca1	A	T	4: 53,109,284 (GRCm39)	N141K	probably benign	Het
Amer1	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	X: 94,470,889 (GRCm39)		probably benign	Het
Bco2	T	C	9: 50,457,371 (GRCm39)	N57S	probably benign	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Cacna1a	T	A	8: 85,338,246 (GRCm39)	W1709R	probably damaging	Het
Cep95	A	G	11: 106,687,042 (GRCm39)	E117G	probably damaging	Het
D17H6S53E	T	A	17: 35,346,145 (GRCm39)	S19T	possibly damaging	Het
Dab2	G	T	15: 6,451,762 (GRCm39)	R126L	probably damaging	Het
Diaph3	T	C	14: 86,893,916 (GRCm39)	D31G	probably damaging	Het
Espl1	T	A	15: 102,228,260 (GRCm39)	L1678*	probably null	Het
Fam171b	T	C	2: 83,710,212 (GRCm39)	V628A	probably damaging	Het
Fgf8	A	T	19: 45,725,679 (GRCm39)	V186E	probably damaging	Het
Fmnl2	A	T	2: 53,006,941 (GRCm39)	Y751F	unknown	Het
Frmpd1	A	T	4: 45,278,886 (GRCm39)	E537V		Het
Garin3	A	G	11: 46,297,673 (GRCm39)	T326A		Het
Grin1	C	T	2: 25,187,909 (GRCm39)	G529D	probably damaging	Het
Heatr1	C	T	13: 12,429,306 (GRCm39)	T872I	possibly damaging	Het
Hectd4	T	C	5: 121,502,616 (GRCm39)	I4240T	probably benign	Het
Hpd	C	T	5: 123,312,532 (GRCm39)	R279H	possibly damaging	Het
Hyls1	T	A	9: 35,473,398 (GRCm39)	Q6L	probably benign	Het
Igfn1	A	T	1: 135,897,229 (GRCm39)	D1112E	possibly damaging	Het
Ighv1-82	T	G	12: 115,916,158 (GRCm39)	R117S	probably damaging	Het
Iqch	G	A	9: 63,389,935 (GRCm39)	A748V		Het
Kcnd2	G	T	6: 21,727,180 (GRCm39)	A578S	probably benign	Het
Klc2	A	G	19: 5,161,565 (GRCm39)	V315A	possibly damaging	Het
Klhl20	A	T	1: 160,937,329 (GRCm39)	D15E	probably benign	Het
Lamb2	G	T	9: 108,365,830 (GRCm39)	G1445W	probably damaging	Het
Lhx4	T	A	1: 155,586,024 (GRCm39)	I96F	probably damaging	Het
Lyzl6	T	C	11: 103,522,168 (GRCm39)	T143A	probably benign	Het
Nup93	G	A	8: 95,041,249 (GRCm39)	A796T	probably damaging	Het
Nutm2	T	C	13: 50,628,475 (GRCm39)	V513A	probably benign	Het
Or51s1	A	G	7: 102,558,746 (GRCm39)	V100A	probably benign	Het
Or52e4	A	T	7: 104,706,275 (GRCm39)	H274L	probably damaging	Het
Pcdh8	A	G	14: 80,008,206 (GRCm39)	V119A	possibly damaging	Het
Pkmyt1	T	C	17: 23,954,691 (GRCm39)	I427T	probably benign	Het
Polr1g	A	T	7: 19,091,817 (GRCm39)	S97T	possibly damaging	Het
Polr3c	T	C	3: 96,629,866 (GRCm39)	D222G	probably null	Het
Prickle2	A	T	6: 92,683,096 (GRCm39)	S11T	probably benign	Het
Prpf8	G	A	11: 75,385,608 (GRCm39)	A930T	probably benign	Het
Prss40	G	T	1: 34,597,106 (GRCm39)	H147Q	probably damaging	Het
Prune2	A	T	19: 17,099,794 (GRCm39)	D1766V	probably benign	Het
Qrich1	C	T	9: 108,411,519 (GRCm39)	T348M	probably benign	Het
Slc20a1	T	C	2: 129,041,933 (GRCm39)	Y99H	probably damaging	Het
Slc6a15	T	C	10: 103,240,333 (GRCm39)	V352A	probably damaging	Het
Ttll3	A	G	6: 113,385,970 (GRCm39)	Q601R	possibly damaging	Het
Virma	T	C	4: 11,507,078 (GRCm39)		probably null	Het
Washc4	A	G	10: 83,417,258 (GRCm39)		probably benign	Het
Zdhhc18	A	T	4: 133,342,541 (GRCm39)	M191K	possibly damaging	Het
Zfp281	A	G	1: 136,554,894 (GRCm39)	N624S	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
R5271:1700003H04Rik	UTSW	3	124,373,496 (GRCm39)	missense	possibly damaging	0.66
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

Predicted Primers

PCR Primer
(F):5'- AGCTTCCATGTGATATAAGTTGGC -3'
(R):5'- TGGTACTCCAATGGGAATTTTCTG -3'

Sequencing Primer
(F):5'- TGGCTTCTTTACATACTCTACAAAC -3'
(R):5'- CTGTTTGTACTAGGAGCTCTCAAG -3'

Posted On

2022-07-18