Mutagenetix > Incidental Mutation

Incidental Mutation 'R6401:Kif19b'

516159

Institutional Source

Beutler Lab

Gene Symbol

Kif19b

Ensembl Gene

ENSMUSG00000106350

Gene Name

kinesin family member 19B

Synonyms

Gm4869

MMRRC Submission

044548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R6401 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140431400-140480826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140442698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 80 (T80S)

Ref Sequence

ENSEMBL: ENSMUSP00000147930 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000197549]

AlphaFold

A0A1B0GSG7

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196158

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197549
AA Change: T80S

PolyPhen 2 Score 0.568 (Sensitivity: 0.88; Specificity: 0.91)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

93% (41/44)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano3	T	A	2: 110,605,459 (GRCm39)	N249I	probably benign	Het
Ap3s1	A	C	18: 46,891,074 (GRCm39)	I56L	probably benign	Het
Ccn5	T	C	2: 163,670,946 (GRCm39)	I151T	probably benign	Het
Cngb1	A	G	8: 96,030,367 (GRCm39)		probably benign	Het
Col2a1	T	C	15: 97,883,773 (GRCm39)	T570A	unknown	Het
Cyp3a16	T	C	5: 145,377,174 (GRCm39)	E471G	probably damaging	Het
D930020B18Rik	A	G	10: 121,477,762 (GRCm39)	N14D	possibly damaging	Het
Ext1	T	C	15: 52,969,493 (GRCm39)	E365G	possibly damaging	Het
Fbn1	C	A	2: 125,188,370 (GRCm39)	V1490F	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm5431	T	A	11: 48,779,536 (GRCm39)	N740I	probably benign	Het
Ifi209	T	C	1: 173,472,269 (GRCm39)	M370T	probably damaging	Het
Ighv2-4	G	T	12: 113,617,082 (GRCm39)	P60Q	probably damaging	Het
Ldb3	A	T	14: 34,299,291 (GRCm39)	L111Q	probably benign	Het
Mcmbp	G	T	7: 128,308,783 (GRCm39)	L413I	possibly damaging	Het
Mib1	T	A	18: 10,795,802 (GRCm39)	M721K	probably benign	Het
Nos3	A	G	5: 24,584,809 (GRCm39)	T738A	probably benign	Het
Notch3	T	A	17: 32,377,597 (GRCm39)	I160L	probably benign	Het
Nrxn3	C	A	12: 89,221,770 (GRCm39)	N516K	possibly damaging	Het
Nt5c2	A	G	19: 46,878,250 (GRCm39)	Y496H	probably benign	Het
Or13f5	A	C	4: 52,826,242 (GRCm39)	T282P	probably damaging	Het
Or1n1	A	T	2: 36,750,177 (GRCm39)	L61*	probably null	Het
Or5b111	T	C	19: 13,290,878 (GRCm39)	Y257C	probably damaging	Het
Polm	A	T	11: 5,779,491 (GRCm39)	W436R	probably damaging	Het
Prex2	T	A	1: 11,256,951 (GRCm39)	I1221N	probably benign	Het
Rfpl4b	T	C	10: 38,696,941 (GRCm39)	H220R	possibly damaging	Het
Rgs12	T	C	5: 35,177,676 (GRCm39)	F79L	probably damaging	Het
Rxfp2	A	G	5: 149,966,595 (GRCm39)	D111G	probably benign	Het
Smg7	A	G	1: 152,715,887 (GRCm39)		probably null	Het
Spata22	T	C	11: 73,224,180 (GRCm39)	S34P	probably damaging	Het
St7	T	A	6: 17,855,317 (GRCm39)		probably null	Het
Stk31	A	G	6: 49,400,372 (GRCm39)	E399G	probably damaging	Het
Tcp10b	C	A	17: 13,292,466 (GRCm39)	N296K	probably damaging	Het
Tonsl	T	C	15: 76,517,866 (GRCm39)	Y645C	probably damaging	Het
Ttn	A	T	2: 76,800,206 (GRCm39)	M334K	probably benign	Het
Vcpkmt	C	A	12: 69,629,619 (GRCm39)	V48F	probably damaging	Het
Vmn2r112	T	A	17: 22,822,532 (GRCm39)	Y403*	probably null	Het
Vwa7	G	A	17: 35,236,286 (GRCm39)		probably null	Het
Wscd2	A	T	5: 113,726,206 (GRCm39)	*572C	probably null	Het
Xpo7	A	G	14: 70,919,787 (GRCm39)	L676P	probably damaging	Het
Zbtb32	A	C	7: 30,291,244 (GRCm39)	L17W	probably damaging	Het

Other mutations in Kif19b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6021:Kif19b	UTSW	5	140,455,434 (GRCm39)	missense	probably damaging	0.98
R6515:Kif19b	UTSW	5	140,480,779 (GRCm39)	missense	possibly damaging	0.47
R7126:Kif19b	UTSW	5	140,477,073 (GRCm39)	missense	probably benign	0.43
R7236:Kif19b	UTSW	5	140,457,400 (GRCm39)	missense	probably benign	0.31
R7241:Kif19b	UTSW	5	140,447,943 (GRCm39)	missense	probably damaging	1.00
R7273:Kif19b	UTSW	5	140,461,767 (GRCm39)	missense	probably damaging	1.00
R7292:Kif19b	UTSW	5	140,457,425 (GRCm39)	missense	probably benign	0.45
R7357:Kif19b	UTSW	5	140,480,806 (GRCm39)	missense	possibly damaging	0.93
R7903:Kif19b	UTSW	5	140,461,767 (GRCm39)	missense	probably damaging	1.00
R8130:Kif19b	UTSW	5	140,460,716 (GRCm39)	missense	probably damaging	1.00
R8794:Kif19b	UTSW	5	140,461,785 (GRCm39)	missense	probably damaging	0.96
R8826:Kif19b	UTSW	5	140,455,434 (GRCm39)	missense	probably damaging	1.00
R8862:Kif19b	UTSW	5	140,472,534 (GRCm39)	missense	probably damaging	0.97
R9013:Kif19b	UTSW	5	140,449,368 (GRCm39)	missense	probably damaging	1.00
R9214:Kif19b	UTSW	5	140,468,257 (GRCm39)	missense	probably benign	0.01
R9605:Kif19b	UTSW	5	140,455,461 (GRCm39)	missense	probably benign	0.26
R9725:Kif19b	UTSW	5	140,460,651 (GRCm39)	missense	probably benign	0.02
R9794:Kif19b	UTSW	5	140,448,070 (GRCm39)	critical splice donor site	probably null
Z1177:Kif19b	UTSW	5	140,464,740 (GRCm39)	missense	probably damaging	0.99
Z1177:Kif19b	UTSW	5	140,446,615 (GRCm39)	critical splice acceptor site	probably null
Z1177:Kif19b	UTSW	5	140,432,177 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACCTTAGCCTCTGTATACGAACAC -3'
(R):5'- CCTCCTTTGTTCTCAGGGAAG -3'

Sequencing Primer
(F):5'- TTAGCCTCTGTATACGAACACACATG -3'
(R):5'- TCAGGGAAGCCTGAGGAAGAC -3'

Posted On

2018-05-04