Mutagenetix > Incidental Mutation

Incidental Mutation 'R4866:Kif19a'

374928

Institutional Source

Beutler Lab

Gene Symbol

Kif19a

Ensembl Gene

ENSMUSG00000010021

Gene Name

kinesin family member 19A

Synonyms

N-8 kinesin

MMRRC Submission

042476-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R4866 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114656227-114681565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 114658053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 37 (M37I)

Ref Sequence

ENSEMBL: ENSMUSP00000115663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084368] [ENSMUST00000138804]

AlphaFold

Q99PT9

Predicted Effect

probably benign
Transcript: ENSMUST00000084368
AA Change: M37I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: M37I

Domain	Start	End	E-Value	Type
KISc	9	354	4.53e-150	SMART
coiled coil region	361	388	N/A	INTRINSIC
coiled coil region	431	449	N/A	INTRINSIC
coiled coil region	506	551	N/A	INTRINSIC
low complexity region	628	641	N/A	INTRINSIC
low complexity region	750	766	N/A	INTRINSIC
low complexity region	807	815	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126555

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137326

Predicted Effect

probably benign
Transcript: ENSMUST00000138804
AA Change: M37I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: M37I

Domain	Start	End	E-Value	Type
KISc	9	312	2.99e-118	SMART
coiled coil region	319	346	N/A	INTRINSIC
coiled coil region	389	407	N/A	INTRINSIC
coiled coil region	464	509	N/A	INTRINSIC
low complexity region	586	599	N/A	INTRINSIC
low complexity region	683	692	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (79/80)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation display partial postnatal lethality, hydroencephaly, female infertility, oviduct obstruction, increased motile cilium length and impaired motile cilium movement. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,593,274 (GRCm39)	R224C	probably damaging	Het
Abcc5	A	T	16: 20,241,182 (GRCm39)	M1K	probably null	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adam5	A	C	8: 25,232,172 (GRCm39)		probably null	Het
Adam5	G	A	8: 25,271,619 (GRCm39)	T596I	probably damaging	Het
Apoa2	T	C	1: 171,053,369 (GRCm39)		probably null	Het
Atad1	A	T	19: 32,679,964 (GRCm39)	H79Q	probably benign	Het
Atp8a2	T	C	14: 59,928,916 (GRCm39)	D1046G	probably damaging	Het
Bcam	A	G	7: 19,499,397 (GRCm39)	Y209H	probably benign	Het
Brpf1	G	A	6: 113,299,431 (GRCm39)	V1120I	probably damaging	Het
Catsperb	G	A	12: 101,474,208 (GRCm39)	C302Y	probably damaging	Het
Cbl	A	G	9: 44,064,166 (GRCm39)	V790A	probably benign	Het
Ccdc60	T	C	5: 116,310,549 (GRCm39)	D171G	probably damaging	Het
Cd300c2	A	T	11: 114,891,807 (GRCm39)	C22*	probably null	Het
Cdan1	C	A	2: 120,561,928 (GRCm39)		probably benign	Het
Cdk5rap1	C	T	2: 154,212,876 (GRCm39)		probably null	Het
Cfap410	T	A	10: 77,817,413 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,964,716 (GRCm39)	D479G	probably damaging	Het
Cmbl	A	G	15: 31,585,490 (GRCm39)	K113E	probably benign	Het
Cog6	G	A	3: 52,918,019 (GRCm39)	T173I	probably benign	Het
Cts6	T	A	13: 61,350,090 (GRCm39)		probably null	Het
Cyp11a1	G	A	9: 57,933,380 (GRCm39)	V413M	probably damaging	Het
Cyp2c39	G	A	19: 39,502,020 (GRCm39)	M136I	probably benign	Het
Dclre1b	A	T	3: 103,715,412 (GRCm39)	Y29N	probably damaging	Het
Depdc1a	T	A	3: 159,221,764 (GRCm39)	I236K	probably damaging	Het
Dhx36	A	T	3: 62,380,198 (GRCm39)	Y833N	probably damaging	Het
Dop1b	G	T	16: 93,560,318 (GRCm39)		probably null	Het
Elovl3	A	G	19: 46,120,603 (GRCm39)	E32G	possibly damaging	Het
Entrep1	A	G	19: 23,952,790 (GRCm39)	S507P	possibly damaging	Het
Epcam	T	C	17: 87,951,049 (GRCm39)	V212A	possibly damaging	Het
Fcrl2	A	T	3: 87,170,773 (GRCm39)	C4S	possibly damaging	Het
Galnt16	T	C	12: 80,630,851 (GRCm39)	Y310H	probably damaging	Het
Gm12789	G	A	4: 101,846,182 (GRCm39)		probably benign	Het
Gspt1	C	T	16: 11,040,529 (GRCm39)	R593H	possibly damaging	Het
Hmcn2	A	T	2: 31,279,403 (GRCm39)	T1802S	possibly damaging	Het
Igha	A	G	12: 113,223,129 (GRCm39)	V166A	probably benign	Het
Itfg2	A	G	6: 128,393,279 (GRCm39)		probably benign	Het
Jund	T	C	8: 71,152,254 (GRCm39)	V183A	probably damaging	Het
Katnb1	T	C	8: 95,824,132 (GRCm39)	S471P	possibly damaging	Het
Kazn	A	G	4: 141,832,216 (GRCm39)	F661S	unknown	Het
Lgr5	C	T	10: 115,288,590 (GRCm39)	V661I	probably benign	Het
Lvrn	G	T	18: 47,026,768 (GRCm39)	A789S	probably damaging	Het
Mapk10	T	C	5: 103,111,391 (GRCm39)	D351G	probably damaging	Het
Mga	T	A	2: 119,794,535 (GRCm39)	C2622S	possibly damaging	Het
Mios	T	G	6: 8,214,857 (GRCm39)	F18V	probably damaging	Het
Mllt6	A	G	11: 97,565,285 (GRCm39)	D575G	probably damaging	Het
Mmp10	G	A	9: 7,508,190 (GRCm39)	V439M	probably damaging	Het
Myh4	A	G	11: 67,139,453 (GRCm39)	D590G	probably benign	Het
Ndufs2	C	T	1: 171,074,618 (GRCm39)	G14R	probably benign	Het
Or10ad1b	T	A	15: 98,125,371 (GRCm39)	I52F	probably damaging	Het
Or51a7	A	T	7: 102,614,927 (GRCm39)	M207L	probably benign	Het
Or56a4	T	C	7: 104,806,514 (GRCm39)	Y125C	possibly damaging	Het
Or8g26	A	G	9: 39,096,367 (GRCm39)	K298E	probably damaging	Het
Plau	G	T	14: 20,887,872 (GRCm39)	V39L	probably benign	Het
Ppp3cb	A	G	14: 20,573,911 (GRCm39)	C275R	probably damaging	Het
Ppp4r4	T	G	12: 103,566,706 (GRCm39)	M51R	possibly damaging	Het
Prr5	A	G	15: 84,626,105 (GRCm39)	Y60C	probably damaging	Het
Ptprt	T	C	2: 161,402,159 (GRCm39)	D1023G	probably damaging	Het
Raly	T	A	2: 154,703,816 (GRCm39)	V129E	probably damaging	Het
Rsph10b	A	G	5: 143,885,347 (GRCm39)	E249G	probably benign	Het
Sart1	A	C	19: 5,432,248 (GRCm39)	L577W	probably damaging	Het
Senp1	T	C	15: 97,964,729 (GRCm39)	E189G	possibly damaging	Het
Slc22a2	G	T	17: 12,803,316 (GRCm39)	C50F	probably damaging	Het
Spem1	A	T	11: 69,711,755 (GRCm39)	V303E	probably damaging	Het
Tgfb3	A	G	12: 86,124,588 (GRCm39)	V40A	possibly damaging	Het
Ttl	T	C	2: 128,923,147 (GRCm39)	S163P	probably damaging	Het
Ttll9	C	A	2: 152,844,920 (GRCm39)	N429K	probably benign	Het
Uggt1	G	A	1: 36,241,936 (GRCm39)	R333*	probably null	Het
Zfhx2	A	G	14: 55,302,993 (GRCm39)	S1664P	possibly damaging	Het
Zfp51	T	A	17: 21,682,012 (GRCm39)	D70E	possibly damaging	Het
Zfp592	T	A	7: 80,691,607 (GRCm39)	V1262E	probably damaging	Het
Zfp595	C	A	13: 67,465,760 (GRCm39)	G168C	probably damaging	Het
Zswim9	A	T	7: 12,995,095 (GRCm39)	S354T	probably damaging	Het

Other mutations in Kif19a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00330:Kif19a	APN	11	114,670,411 (GRCm39)	missense	probably damaging	1.00
IGL00743:Kif19a	APN	11	114,675,599 (GRCm39)	missense	probably damaging	1.00
IGL00763:Kif19a	APN	11	114,657,994 (GRCm39)	missense	probably benign	0.00
IGL01327:Kif19a	APN	11	114,672,625 (GRCm39)	splice site	probably benign
IGL02422:Kif19a	APN	11	114,680,187 (GRCm39)	missense	probably damaging	1.00
IGL02481:Kif19a	APN	11	114,679,979 (GRCm39)	missense	probably benign	0.28
IGL02496:Kif19a	APN	11	114,670,470 (GRCm39)	missense	probably damaging	0.99
IGL02735:Kif19a	APN	11	114,676,393 (GRCm39)	missense	probably damaging	1.00
IGL02830:Kif19a	APN	11	114,672,034 (GRCm39)	missense	probably damaging	1.00
IGL02902:Kif19a	APN	11	114,676,396 (GRCm39)	missense	possibly damaging	0.46
IGL03372:Kif19a	APN	11	114,670,044 (GRCm39)	missense	probably damaging	0.99
PIT4520001:Kif19a	UTSW	11	114,672,034 (GRCm39)	missense	probably damaging	1.00
R0212:Kif19a	UTSW	11	114,675,736 (GRCm39)	missense	possibly damaging	0.48
R0383:Kif19a	UTSW	11	114,656,340 (GRCm39)	start codon destroyed	possibly damaging	0.63
R0850:Kif19a	UTSW	11	114,671,613 (GRCm39)	missense	probably damaging	0.99
R1343:Kif19a	UTSW	11	114,676,653 (GRCm39)	missense	probably benign	0.08
R1422:Kif19a	UTSW	11	114,676,635 (GRCm39)	missense	probably benign	0.01
R1547:Kif19a	UTSW	11	114,677,398 (GRCm39)	missense	probably benign	0.41
R1591:Kif19a	UTSW	11	114,680,057 (GRCm39)	missense	probably benign
R2148:Kif19a	UTSW	11	114,671,594 (GRCm39)	missense	probably damaging	1.00
R2291:Kif19a	UTSW	11	114,681,019 (GRCm39)	missense	probably damaging	1.00
R3814:Kif19a	UTSW	11	114,672,745 (GRCm39)	missense	probably damaging	1.00
R3944:Kif19a	UTSW	11	114,677,561 (GRCm39)	missense	probably benign	0.34
R4631:Kif19a	UTSW	11	114,675,673 (GRCm39)	missense	possibly damaging	0.95
R4867:Kif19a	UTSW	11	114,658,053 (GRCm39)	missense	probably benign	0.00
R5022:Kif19a	UTSW	11	114,658,053 (GRCm39)	missense	probably benign	0.00
R5071:Kif19a	UTSW	11	114,658,053 (GRCm39)	missense	probably benign	0.00
R5072:Kif19a	UTSW	11	114,658,053 (GRCm39)	missense	probably benign	0.00
R5073:Kif19a	UTSW	11	114,658,053 (GRCm39)	missense	probably benign	0.00
R5074:Kif19a	UTSW	11	114,658,053 (GRCm39)	missense	probably benign	0.00
R5091:Kif19a	UTSW	11	114,673,923 (GRCm39)	missense	probably damaging	1.00
R5640:Kif19a	UTSW	11	114,670,041 (GRCm39)	missense	probably benign	0.25
R5646:Kif19a	UTSW	11	114,670,480 (GRCm39)	missense	probably damaging	1.00
R5786:Kif19a	UTSW	11	114,670,049 (GRCm39)	nonsense	probably null
R5890:Kif19a	UTSW	11	114,680,264 (GRCm39)	missense	possibly damaging	0.92
R6344:Kif19a	UTSW	11	114,672,777 (GRCm39)	critical splice donor site	probably null
R6522:Kif19a	UTSW	11	114,676,605 (GRCm39)	missense	probably damaging	1.00
R6570:Kif19a	UTSW	11	114,675,731 (GRCm39)	missense	possibly damaging	0.63
R6879:Kif19a	UTSW	11	114,672,159 (GRCm39)	missense	probably benign	0.03
R7028:Kif19a	UTSW	11	114,672,034 (GRCm39)	missense	probably damaging	1.00
R7274:Kif19a	UTSW	11	114,656,281 (GRCm39)	start gained	probably benign
R7492:Kif19a	UTSW	11	114,681,065 (GRCm39)	missense	probably benign	0.36
R7782:Kif19a	UTSW	11	114,672,748 (GRCm39)	missense	probably damaging	1.00
R8473:Kif19a	UTSW	11	114,678,377 (GRCm39)	missense	probably damaging	1.00
R8712:Kif19a	UTSW	11	114,675,599 (GRCm39)	missense	probably damaging	1.00
R9332:Kif19a	UTSW	11	114,680,033 (GRCm39)	missense	possibly damaging	0.49
R9596:Kif19a	UTSW	11	114,676,752 (GRCm39)	missense	probably benign	0.31
Z1176:Kif19a	UTSW	11	114,680,655 (GRCm39)	missense	probably benign	0.12
Z1176:Kif19a	UTSW	11	114,677,416 (GRCm39)	missense	probably damaging	1.00
Z1177:Kif19a	UTSW	11	114,675,730 (GRCm39)	missense	probably benign	0.33
Z1177:Kif19a	UTSW	11	114,672,141 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGCTGGAGAACACAACCCTG -3'
(R):5'- GATGTTGACAGCATGTGGATC -3'

Sequencing Primer
(F):5'- CCTGTTGGGAAAGGAATTCAAAGACC -3'
(R):5'- CAAAATGTATCTTATGGTCTGGGCTC -3'

Posted On

2016-03-17