Mutagenetix > Incidental Mutation

Incidental Mutation 'R8410:1700001K19Rik'

652638

Institutional Source

Beutler Lab

Gene Symbol

1700001K19Rik

Ensembl Gene

ENSMUSG00000056508

Gene Name

RIKEN cDNA 1700001K19 gene

Synonyms

MMRRC Submission

067880-MU

Accession Numbers

Essential gene?

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

Stock #

R8410 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110634122-110649053 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110635145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 131 (M131K)

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 benign
Transcript: ENSMUST00000070659
AA Change: M131K

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000068238
Gene: ENSMUSG00000056508
AA Change: M131K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000222915

Meta Mutation Damage Score

0.0846

Coding Region Coverage

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

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox15	T	C	11: 70,235,753 (GRCm39)	T569A	probably benign	Het
Arfgef1	A	G	1: 10,229,867 (GRCm39)	V1278A	possibly damaging	Het
Armc5	C	T	7: 127,839,323 (GRCm39)	R214C	probably damaging	Het
Asl	A	G	5: 130,042,351 (GRCm39)	F242L	possibly damaging	Het
Atoh1	G	A	6: 64,706,634 (GRCm39)	G110S	probably benign	Het
Caskin1	T	C	17: 24,721,123 (GRCm39)	F488L	possibly damaging	Het
Chsy1	T	A	7: 65,775,211 (GRCm39)	L180Q	probably damaging	Het
D1Pas1	A	T	1: 186,700,512 (GRCm39)	Q147L	probably benign	Het
D930020B18Rik	A	G	10: 121,521,435 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,395,819 (GRCm39)		probably null	Het
Dsp	A	G	13: 38,380,791 (GRCm39)	E2512G	possibly damaging	Het
Eci2	T	C	13: 35,162,018 (GRCm39)	K351R	probably benign	Het
Frem2	A	G	3: 53,446,598 (GRCm39)	V2390A	possibly damaging	Het
Frmpd2	G	A	14: 33,217,624 (GRCm39)	A40T	probably damaging	Het
Gapdhs	G	A	7: 30,437,335 (GRCm39)	P77S	unknown	Het
Heatr5a	T	A	12: 51,984,903 (GRCm39)	I637F	probably benign	Het
Jakmip1	G	A	5: 37,274,828 (GRCm39)	V449M	possibly damaging	Het
Myh14	G	T	7: 44,282,907 (GRCm39)	F737L	probably damaging	Het
Nbea	A	G	3: 55,944,684 (GRCm39)	V560A	probably damaging	Het
Or13n4	T	A	7: 106,423,745 (GRCm39)		probably benign	Het
Or2v2	A	T	11: 49,004,511 (GRCm39)	I14N	possibly damaging	Het
Or4f4-ps1	T	A	2: 111,330,047 (GRCm39)	M150K	probably damaging	Het
Or6x1	C	T	9: 40,098,732 (GRCm39)	T107I	possibly damaging	Het
Prex2	G	T	1: 11,223,881 (GRCm39)	R735L	possibly damaging	Het
Rrm2	T	C	12: 24,758,622 (GRCm39)	S55P	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Ruvbl2	T	C	7: 45,080,756 (GRCm39)	I19V	probably benign	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Slc15a5	A	T	6: 137,989,153 (GRCm39)	M147K		Het
St3gal5	A	G	6: 72,119,281 (GRCm39)	D158G	probably benign	Het
Stac3	G	A	10: 127,339,199 (GRCm39)	D103N	probably damaging	Het
Syt2	G	A	1: 134,674,602 (GRCm39)	E347K	possibly damaging	Het
Tent5b	A	G	4: 133,214,362 (GRCm39)	Q411R	possibly damaging	Het
Ticrr	A	G	7: 79,317,423 (GRCm39)	E319G	probably damaging	Het
Ttn	A	G	2: 76,539,985 (GRCm39)	S34334P	probably damaging	Het
Uqcrb	C	A	13: 67,048,850 (GRCm39)	R100L	unknown	Het
Usp43	T	G	11: 67,747,146 (GRCm39)	T854P	probably damaging	Het
Vmn2r102	T	C	17: 19,898,196 (GRCm39)	Y404H	possibly damaging	Het
Wrn	C	T	8: 33,759,048 (GRCm39)	G970D	probably damaging	Het
Zfp456	A	G	13: 67,520,915 (GRCm39)	Y27H	probably damaging	Het
Zfp516	G	T	18: 82,974,458 (GRCm39)	G219C	probably damaging	Het
Zyx	A	T	6: 42,333,384 (GRCm39)	N437Y	probably benign	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
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'- TCTCTTGGAAAGCGACAGC -3'
(R):5'- CAGTTACCATAGCCATCGTGC -3'

Sequencing Primer
(F):5'- AAAGCGACAGCCTGGTC -3'
(R):5'- TAGCCATCGTGCCCACC -3'

Posted On

2020-10-20