Mutagenetix > Incidental Mutation

Incidental Mutation 'R9001:1700001K19Rik'

684988

Institutional Source

Beutler Lab

Gene Symbol

1700001K19Rik

Ensembl Gene

ENSMUSG00000056508

Gene Name

RIKEN cDNA 1700001K19 gene

Synonyms

MMRRC Submission

068832-MU

Accession Numbers

Essential gene?

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

Stock #

R9001 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

110634122-110649053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110637176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 26 (R26G)

Ref Sequence

ENSEMBL: ENSMUSP00000068238 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018851] [ENSMUST00000070659] [ENSMUST00000222915]

AlphaFold

Q80ZT1

Predicted Effect

probably benign
Transcript: ENSMUST00000018851

SMART Domains

Protein: ENSMUSP00000018851
Gene: ENSMUSG00000018707

Domain	Start	End	E-Value	Type
low complexity region	46	61	N/A	INTRINSIC
low complexity region	83	95	N/A	INTRINSIC
Pfam:DHC_N1	237	830	1.9e-145	PFAM
coiled coil region	1171	1198	N/A	INTRINSIC
Pfam:DHC_N2	1317	1721	3.3e-116	PFAM
AAA	1899	2043	5.39e-2	SMART
low complexity region	2102	2116	N/A	INTRINSIC
AAA	2214	2365	2.13e0	SMART
low complexity region	2394	2405	N/A	INTRINSIC
AAA	2585	2735	8.6e-7	SMART
Blast:AAA	2777	2811	2e-13	BLAST
AAA	2927	3093	4.79e-5	SMART
Pfam:MT	3197	3534	1.1e-44	PFAM
Pfam:AAA_9	3554	3778	8.5e-75	PFAM
Pfam:Dynein_heavy	3919	4642	4.3e-163	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000070659
AA Change: R26G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000068238
Gene: ENSMUSG00000056508
AA Change: R26G

Domain	Start	End	E-Value	Type
low complexity region	196	210	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000222915
AA Change: R26G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a2	A	G	9: 71,192,462 (GRCm39)	N439S	probably damaging	Het
Arfgef3	C	T	10: 18,522,476 (GRCm39)	E517K	probably benign	Het
Arhgap29	A	T	3: 121,775,523 (GRCm39)	I89L	probably benign	Het
Btbd3	G	A	2: 138,122,296 (GRCm39)	V149I	possibly damaging	Het
Chst5	T	A	8: 112,616,534 (GRCm39)	H362L	probably benign	Het
Cmtm2a	A	G	8: 105,019,376 (GRCm39)	V71A	probably benign	Het
Col6a4	T	A	9: 105,944,370 (GRCm39)	I1035F	probably benign	Het
Csmd2	T	C	4: 128,308,079 (GRCm39)	V1279A		Het
Csmd3	A	T	15: 47,596,901 (GRCm39)	V1068E		Het
Ddx50	T	C	10: 62,475,728 (GRCm39)	Y331C	probably benign	Het
Dhx30	A	G	9: 109,916,623 (GRCm39)	Y631H	probably damaging	Het
Dnah10	G	A	5: 124,852,515 (GRCm39)	G1915S	probably damaging	Het
Dop1a	A	G	9: 86,436,374 (GRCm39)	*2463W	probably null	Het
Dst	G	T	1: 34,213,292 (GRCm39)	V1395F	possibly damaging	Het
Dzip1l	T	C	9: 99,523,907 (GRCm39)		probably null	Het
Eef1akmt3	T	C	10: 126,877,232 (GRCm39)	E11G	probably benign	Het
Elfn2	A	G	15: 78,557,438 (GRCm39)	F370L	probably benign	Het
Enam	T	A	5: 88,637,388 (GRCm39)	F104Y	probably benign	Het
Esd	A	G	14: 74,983,123 (GRCm39)	E258G	probably benign	Het
Fam181b	G	A	7: 92,730,356 (GRCm39)	A377T	unknown	Het
Gabrr3	A	G	16: 59,282,008 (GRCm39)	I454M	probably benign	Het
Ggt5	T	A	10: 75,445,992 (GRCm39)	V462D	probably benign	Het
Gm3250	T	C	10: 77,618,178 (GRCm39)	S67G	unknown	Het
Grn	A	T	11: 102,327,497 (GRCm39)	Y286F		Het
Gulp1	A	G	1: 44,827,709 (GRCm39)	I284V	probably benign	Het
Ilf2	A	G	3: 90,390,108 (GRCm39)	N140S	probably benign	Het
Ints4	C	A	7: 97,190,276 (GRCm39)	P925Q	possibly damaging	Het
Khdc1b	A	G	1: 21,454,560 (GRCm39)	N88D	possibly damaging	Het
Kif15	T	G	9: 122,826,855 (GRCm39)	C798G	probably benign	Het
Ktn1	T	A	14: 47,910,409 (GRCm39)	V285E	probably damaging	Het
Lrif1	A	G	3: 106,641,860 (GRCm39)	S59G	probably benign	Het
Mpdz	A	G	4: 81,299,999 (GRCm39)	M333T	probably benign	Het
Mrm3	A	G	11: 76,141,234 (GRCm39)	D414G	probably benign	Het
Msantd5f3	A	T	4: 73,575,280 (GRCm39)	R320*	probably null	Het
Mtpap	A	G	18: 4,380,831 (GRCm39)	N170D	probably benign	Het
Nelfb	C	A	2: 25,096,287 (GRCm39)	R274L	probably damaging	Het
Or56a3b	T	G	7: 104,771,447 (GRCm39)	V261G	probably damaging	Het
Pkm	A	G	9: 59,572,626 (GRCm39)	N44S	probably benign	Het
Rel	T	C	11: 23,698,855 (GRCm39)	D144G	probably damaging	Het
Scgb2b21	A	T	7: 33,218,956 (GRCm39)		probably benign	Het
Serpinb1b	T	A	13: 33,277,743 (GRCm39)	D325E	probably benign	Het
Slco4c1	A	G	1: 96,748,956 (GRCm39)	C654R	probably damaging	Het
Srgap2	T	C	1: 131,291,798 (GRCm39)	K143R	probably damaging	Het
Szt2	G	A	4: 118,235,529 (GRCm39)	H2034Y	unknown	Het
Thbs2	T	C	17: 14,889,007 (GRCm39)	D1164G	probably damaging	Het
Tnfrsf10b	T	C	14: 70,015,250 (GRCm39)	S243P	possibly damaging	Het
Tnxb	T	A	17: 34,922,410 (GRCm39)	S2408T	probably benign	Het
Topors	A	T	4: 40,261,696 (GRCm39)	D529E	possibly damaging	Het
Trmt5	T	C	12: 73,331,643 (GRCm39)	M138V	probably benign	Het
Vmn2r81	A	G	10: 79,104,104 (GRCm39)	I242M	possibly damaging	Het
Zfp523	A	G	17: 28,408,915 (GRCm39)	Q21R	possibly damaging	Het
Zfp646	T	A	7: 127,478,856 (GRCm39)	N344K	probably damaging	Het

Other mutations in 1700001K19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:1700001K19Rik	UTSW	12	110,634,884 (GRCm39)	unclassified	probably benign
FR4304:1700001K19Rik	UTSW	12	110,634,883 (GRCm39)	unclassified	probably benign
FR4548:1700001K19Rik	UTSW	12	110,634,886 (GRCm39)	unclassified	probably benign
FR4548:1700001K19Rik	UTSW	12	110,634,883 (GRCm39)	unclassified	probably benign
FR4737:1700001K19Rik	UTSW	12	110,634,882 (GRCm39)	unclassified	probably benign
FR4976:1700001K19Rik	UTSW	12	110,634,884 (GRCm39)	unclassified	probably benign
FR4976:1700001K19Rik	UTSW	12	110,634,881 (GRCm39)	unclassified	probably benign
R0266:1700001K19Rik	UTSW	12	110,635,188 (GRCm39)	missense	possibly damaging	0.59
R1345:1700001K19Rik	UTSW	12	110,635,152 (GRCm39)	missense	probably damaging	1.00
R1859:1700001K19Rik	UTSW	12	110,637,268 (GRCm39)	start gained	probably benign
R7020:1700001K19Rik	UTSW	12	110,634,975 (GRCm39)	missense	probably damaging	1.00
R7225:1700001K19Rik	UTSW	12	110,637,299 (GRCm39)	splice site	probably benign
R7311:1700001K19Rik	UTSW	12	110,635,184 (GRCm39)	missense	probably benign
R8410:1700001K19Rik	UTSW	12	110,635,145 (GRCm39)	missense	probably benign	0.21
RF022:1700001K19Rik	UTSW	12	110,634,877 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCAAGCTCACAAAGGAGC -3'
(R):5'- TCGAGTTATAGCCACAGCCC -3'

Sequencing Primer
(F):5'- GCTCACAAAGGAGCCCAGG -3'
(R):5'- ACATAGGGTCTTGCTATGTCCCAAG -3'

Posted On

2021-10-11