Mutagenetix > Incidental Mutation

Incidental Mutation 'R7020:1700001K19Rik'

545581

Institutional Source

Beutler Lab

Gene Symbol

1700001K19Rik

Ensembl Gene

ENSMUSG00000056508

Gene Name

RIKEN cDNA 1700001K19 gene

Synonyms

MMRRC Submission

045121-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110634122-110649053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 110634975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 188 (G188R)

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: G188R

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

SMART Domains

Protein: ENSMUSP00000068238
Gene: ENSMUSG00000056508
AA Change: G188R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222915

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	T	C	18: 10,645,127 (GRCm39)	Y384C	probably damaging	Het
Cd209b	T	A	8: 3,968,783 (GRCm39)	E282V	probably damaging	Het
Cep350	A	C	1: 155,804,077 (GRCm39)	L1002W	probably damaging	Het
Clcn1	T	C	6: 42,275,754 (GRCm39)	V292A	probably damaging	Het
Clcn7	T	C	17: 25,365,325 (GRCm39)	I107T	possibly damaging	Het
Cntrob	A	G	11: 69,193,918 (GRCm39)		probably null	Het
Crb1	A	T	1: 139,159,341 (GRCm39)	S1294T	possibly damaging	Het
Cst13	T	G	2: 148,665,129 (GRCm39)	Y41*	probably null	Het
Gp1ba	A	G	11: 70,531,139 (GRCm39)		probably benign	Het
Gucy2e	A	T	11: 69,123,619 (GRCm39)	L427I	probably benign	Het
Gucy2g	A	G	19: 55,221,482 (GRCm39)	S340P	probably damaging	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Iglon5	A	T	7: 43,126,319 (GRCm39)	C195S	probably damaging	Het
Itgae	A	G	11: 73,002,195 (GRCm39)	T100A	probably damaging	Het
Jarid2	C	T	13: 45,038,300 (GRCm39)	S205L	probably damaging	Het
Macrod2	A	T	2: 142,231,795 (GRCm39)	*424C	probably null	Het
Map2k6	A	T	11: 110,397,540 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,570,628 (GRCm39)	K563*	probably null	Het
Myh7b	T	C	2: 155,473,671 (GRCm39)	I1568T	possibly damaging	Het
Myo15b	G	A	11: 115,757,493 (GRCm39)	W1114*	probably null	Het
Mypn	T	C	10: 63,028,289 (GRCm39)	Y258C	probably damaging	Het
Notch1	T	C	2: 26,371,586 (GRCm39)	T288A	possibly damaging	Het
Npc1	C	T	18: 12,331,594 (GRCm39)	G859R	probably damaging	Het
Olfm2	T	A	9: 20,579,864 (GRCm39)	R326W	probably damaging	Het
Or2a7	T	C	6: 43,151,096 (GRCm39)	Y59H	possibly damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5g23	A	G	2: 85,438,976 (GRCm39)	S93P	probably benign	Het
Ovol1	G	A	19: 5,610,261 (GRCm39)	P23L	probably damaging	Het
Pappa2	C	A	1: 158,675,579 (GRCm39)	V1056F	probably damaging	Het
Pik3ca	T	C	3: 32,490,428 (GRCm39)	L25S	probably damaging	Het
Pla2r1	T	C	2: 60,277,743 (GRCm39)	H860R	possibly damaging	Het
Pms1	A	T	1: 53,228,541 (GRCm39)	H902Q	probably damaging	Het
Ptgs1	T	G	2: 36,141,041 (GRCm39)	L496R	probably damaging	Het
Ralgapa2	A	T	2: 146,188,638 (GRCm39)	Y1381*	probably null	Het
Rtl1	T	C	12: 109,558,749 (GRCm39)	Q1030R	possibly damaging	Het
Ryr3	T	A	2: 112,583,423 (GRCm39)	Y2816F	probably benign	Het
Sh2b2	T	C	5: 136,253,153 (GRCm39)	T340A	possibly damaging	Het
Slc30a5	T	A	13: 100,961,421 (GRCm39)		probably null	Het
Spta1	T	C	1: 174,036,918 (GRCm39)	L1143P	probably damaging	Het
St8sia5	T	C	18: 77,333,876 (GRCm39)	I178T	probably damaging	Het
Tap2	A	G	17: 34,433,388 (GRCm39)	N517S	possibly damaging	Het
Tcp11	A	G	17: 28,290,679 (GRCm39)	Y227H	possibly damaging	Het
Usp34	A	G	11: 23,343,954 (GRCm39)	D1411G	probably benign	Het
Vmn2r105	A	G	17: 20,429,336 (GRCm39)	L580P	probably damaging	Het
Wdr19	A	G	5: 65,413,657 (GRCm39)	E1200G	probably damaging	Het
Xirp2	T	C	2: 67,355,913 (GRCm39)	V3558A	probably benign	Het
Xpo7	T	C	14: 70,903,463 (GRCm39)	N1082S	probably benign	Het
Zbtb49	A	T	5: 38,370,711 (GRCm39)	L390*	probably null	Het
Zfp639	C	A	3: 32,574,261 (GRCm39)	D295E	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
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
R9001:1700001K19Rik	UTSW	12	110,637,176 (GRCm39)	missense	probably damaging	1.00
RF022:1700001K19Rik	UTSW	12	110,634,877 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTAAGGACTGAGTTTGGCGT -3'
(R):5'- GAAAGCTTCTGTCTGGGCCC -3'

Sequencing Primer
(F):5'- ACTGAGTTTGGCGTGGGTCC -3'
(R):5'- AGTCCATGACGTCGACATG -3'

Posted On

2019-05-13