Mutagenetix > Incidental Mutation

Incidental Mutation 'R6570:Kif19a'

526215

Institutional Source

Beutler Lab

Gene Symbol

Kif19a

Ensembl Gene

ENSMUSG00000010021

Gene Name

kinesin family member 19A

Synonyms

N-8 kinesin

MMRRC Submission

044694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R6570 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114656227-114681565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 114675731 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 401 (R401L)

Ref Sequence

ENSEMBL: ENSMUSP00000081398 (fasta)

Gene Model

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

AlphaFold

Q99PT9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000084368
AA Change: R401L

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000081398
Gene: ENSMUSG00000010021
AA Change: R401L

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: ENSMUST00000131782

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137326

Predicted Effect

probably benign
Transcript: ENSMUST00000138340

SMART Domains

Protein: ENSMUSP00000122743
Gene: ENSMUSG00000010021

Domain	Start	End	E-Value	Type
low complexity region	22	38	N/A	INTRINSIC
low complexity region	79	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138804
AA Change: R359L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115663
Gene: ENSMUSG00000010021
AA Change: R359L

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

Coding Region Coverage

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

Validation Efficiency

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: 14 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdh15	T	C	8: 123,584,130 (GRCm39)	V77A	probably damaging	Het
Cfap54	C	T	10: 92,651,820 (GRCm39)	V3077I	unknown	Het
Erbb2	T	C	11: 98,313,873 (GRCm39)	L272P	possibly damaging	Het
Exd1	T	C	2: 119,350,654 (GRCm39)	T536A	probably benign	Het
Hoxc9	A	T	15: 102,890,185 (GRCm39)	H34L	probably benign	Het
Mad2l1bp	A	T	17: 46,463,933 (GRCm39)	H30Q	probably benign	Het
Mettl13	A	G	1: 162,371,855 (GRCm39)	L26P	probably damaging	Het
Mmp16	G	A	4: 18,011,501 (GRCm39)	V110I	possibly damaging	Het
Or2m13	T	C	16: 19,226,068 (GRCm39)	S233G	probably benign	Het
Plcb4	C	T	2: 135,824,906 (GRCm39)	A863V	probably benign	Het
Rnf168	G	A	16: 32,108,028 (GRCm39)	S219N	probably benign	Het
Serpine3	T	A	14: 62,911,770 (GRCm39)	L244Q	probably damaging	Het
Vmn1r75	T	C	7: 11,614,883 (GRCm39)	V205A	probably damaging	Het
Zscan4d	A	G	7: 10,895,927 (GRCm39)	V481A	possibly 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
R4866:Kif19a	UTSW	11	114,658,053 (GRCm39)	missense	probably benign	0.00
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
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'- GAAAGGGAGGCTGGTTCCTG -3'
(R):5'- AAAGCAAACAGTGTGGTCCC -3'

Sequencing Primer
(F):5'- GGTGACTGTACCCCTTCACG -3'
(R):5'- TCCCATTTTACAGGGGAAGGCTC -3'

Posted On

2018-06-22