Mutagenetix > Incidental Mutation

Incidental Mutation 'R7630:Kif26a'

589606

Institutional Source

Beutler Lab

Gene Symbol

Kif26a

Ensembl Gene

ENSMUSG00000021294

Gene Name

kinesin family member 26A

Synonyms

N-11 kinesin

MMRRC Submission

045691-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7630 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

112112642-112148181 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 112142131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 795 (D795G)

Ref Sequence

ENSEMBL: ENSMUSP00000119482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000128402]

AlphaFold

Q52KG5

Predicted Effect

probably damaging
Transcript: ENSMUST00000128402
AA Change: D795G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: D795G

Domain	Start	End	E-Value	Type
low complexity region	238	248	N/A	INTRINSIC
low complexity region	279	297	N/A	INTRINSIC
KISc	362	726	9.57e-35	SMART
low complexity region	727	739	N/A	INTRINSIC
low complexity region	740	754	N/A	INTRINSIC
low complexity region	932	957	N/A	INTRINSIC
low complexity region	1005	1012	N/A	INTRINSIC
low complexity region	1044	1054	N/A	INTRINSIC
low complexity region	1084	1095	N/A	INTRINSIC
low complexity region	1328	1360	N/A	INTRINSIC
low complexity region	1458	1471	N/A	INTRINSIC
low complexity region	1477	1493	N/A	INTRINSIC
low complexity region	1519	1538	N/A	INTRINSIC
low complexity region	1574	1587	N/A	INTRINSIC
low complexity region	1664	1675	N/A	INTRINSIC
low complexity region	1699	1713	N/A	INTRINSIC
coiled coil region	1780	1812	N/A	INTRINSIC

Meta Mutation Damage Score

0.1485

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (40/43)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death associated with megacolon and hyperganglionosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	G	T	13: 31,742,978 (GRCm39)	R92S	unknown	Het
Agbl1	A	T	7: 76,535,904 (GRCm39)	I1019F	unknown	Het
Arhgap15	A	G	2: 43,670,648 (GRCm39)	T11A	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Atg2b	T	C	12: 105,613,213 (GRCm39)		probably null	Het
Aup1	C	A	6: 83,031,904 (GRCm39)	D50E	unknown	Het
Ccl25	A	G	8: 4,403,955 (GRCm39)	Y49C	probably damaging	Het
Cnga3	A	G	1: 37,297,127 (GRCm39)	D148G	probably damaging	Het
Cpeb3	A	T	19: 37,031,693 (GRCm39)	F570I	probably damaging	Het
Cyp3a16	T	A	5: 145,373,120 (GRCm39)		probably null	Het
Eif2d	C	T	1: 131,082,103 (GRCm39)	T65M	probably benign	Het
Fryl	T	C	5: 73,267,588 (GRCm39)	I426V	possibly damaging	Het
Hgf	T	C	5: 16,803,248 (GRCm39)	S387P	probably benign	Het
Hyal6	T	C	6: 24,734,583 (GRCm39)	V172A	probably damaging	Het
Il10ra	T	C	9: 45,167,369 (GRCm39)	D396G	probably damaging	Het
Lrrc8c	T	A	5: 105,755,568 (GRCm39)	S448T	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Notch2	A	G	3: 98,044,824 (GRCm39)	D1582G	possibly damaging	Het
Or14c42-ps1	T	C	7: 86,211,680 (GRCm39)	S247P	probably damaging	Het
Or1l4b	A	C	2: 37,036,371 (GRCm39)	D49A	probably damaging	Het
Osmr	T	C	15: 6,846,452 (GRCm39)	I741V	possibly damaging	Het
Plec	C	T	15: 76,074,816 (GRCm39)		probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prkn	A	G	17: 11,456,455 (GRCm39)	E93G	probably benign	Het
Rexo4	A	T	2: 26,850,622 (GRCm39)	F247I	probably damaging	Het
Rph3a	T	C	5: 121,081,113 (GRCm39)	D628G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rxylt1	T	C	10: 121,931,865 (GRCm39)	I103V	possibly damaging	Het
Scnn1g	T	C	7: 121,359,704 (GRCm39)	S396P	probably damaging	Het
Slc1a5	G	A	7: 16,529,732 (GRCm39)	V384M	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Smc4	CTA	CTATA	3: 68,925,400 (GRCm39)		probably benign	Het
Synpo2	A	G	3: 122,873,681 (GRCm39)	V1154A	probably damaging	Het
Tanc2	T	C	11: 105,667,734 (GRCm39)	V105A	probably benign	Het
Tapbp	T	C	17: 34,139,318 (GRCm39)	S105P	probably benign	Het
Tmem79	T	C	3: 88,240,768 (GRCm39)	E60G	possibly damaging	Het
Txnrd2	A	G	16: 18,257,140 (GRCm39)	D152G	possibly damaging	Het
Vcl	T	A	14: 21,033,470 (GRCm39)	L142*	probably null	Het
Vmn2r58	T	C	7: 41,513,611 (GRCm39)	Y344C	probably damaging	Het
Vmn2r-ps117	A	G	17: 19,044,909 (GRCm39)	D442G	probably benign	Het
Xpo6	A	T	7: 125,739,561 (GRCm39)		probably null	Het

Other mutations in Kif26a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Kif26a	APN	12	112,124,066 (GRCm39)	missense	probably damaging	0.97
IGL01734:Kif26a	APN	12	112,143,262 (GRCm39)	missense	probably benign	0.23
IGL01916:Kif26a	APN	12	112,143,328 (GRCm39)	missense	possibly damaging	0.49
IGL02080:Kif26a	APN	12	112,124,000 (GRCm39)	missense	probably damaging	1.00
IGL02138:Kif26a	APN	12	112,141,284 (GRCm39)	missense	probably damaging	1.00
IGL02145:Kif26a	APN	12	112,143,409 (GRCm39)	missense	probably benign	0.00
IGL02285:Kif26a	APN	12	112,123,941 (GRCm39)	missense	probably damaging	1.00
IGL02393:Kif26a	APN	12	112,139,098 (GRCm39)	missense	probably damaging	1.00
IGL02445:Kif26a	APN	12	112,140,177 (GRCm39)	missense	probably damaging	1.00
IGL02865:Kif26a	APN	12	112,144,049 (GRCm39)	nonsense	probably null
IGL03057:Kif26a	APN	12	112,142,208 (GRCm39)	nonsense	probably null
IGL03204:Kif26a	APN	12	112,141,213 (GRCm39)	missense	probably damaging	1.00
R0013:Kif26a	UTSW	12	112,144,314 (GRCm39)	missense	probably benign	0.03
R0034:Kif26a	UTSW	12	112,135,397 (GRCm39)	splice site	probably benign
R0089:Kif26a	UTSW	12	112,143,837 (GRCm39)	missense	probably damaging	0.98
R0111:Kif26a	UTSW	12	112,129,771 (GRCm39)	splice site	probably benign
R0220:Kif26a	UTSW	12	112,123,824 (GRCm39)	missense	probably damaging	0.98
R0346:Kif26a	UTSW	12	112,145,782 (GRCm39)	missense	probably null	0.09
R0383:Kif26a	UTSW	12	112,144,510 (GRCm39)	missense	possibly damaging	0.94
R0478:Kif26a	UTSW	12	112,142,223 (GRCm39)	missense	probably damaging	1.00
R0494:Kif26a	UTSW	12	112,145,905 (GRCm39)	splice site	probably null
R1163:Kif26a	UTSW	12	112,146,379 (GRCm39)	missense	probably benign	0.08
R1450:Kif26a	UTSW	12	112,140,286 (GRCm39)	missense	probably damaging	1.00
R1512:Kif26a	UTSW	12	112,113,389 (GRCm39)	missense	possibly damaging	0.47
R1616:Kif26a	UTSW	12	112,123,680 (GRCm39)	critical splice acceptor site	probably null
R1723:Kif26a	UTSW	12	112,140,292 (GRCm39)	missense	possibly damaging	0.67
R1728:Kif26a	UTSW	12	112,143,219 (GRCm39)	missense	possibly damaging	0.95
R1729:Kif26a	UTSW	12	112,143,219 (GRCm39)	missense	possibly damaging	0.95
R1903:Kif26a	UTSW	12	112,141,974 (GRCm39)	missense	probably damaging	1.00
R2283:Kif26a	UTSW	12	112,143,787 (GRCm39)	missense	possibly damaging	0.66
R3862:Kif26a	UTSW	12	112,146,323 (GRCm39)	missense	probably benign	0.30
R3906:Kif26a	UTSW	12	112,143,324 (GRCm39)	missense	probably benign
R4050:Kif26a	UTSW	12	112,146,350 (GRCm39)	missense	probably benign	0.08
R4270:Kif26a	UTSW	12	112,139,848 (GRCm39)	missense	probably damaging	1.00
R4271:Kif26a	UTSW	12	112,139,848 (GRCm39)	missense	probably damaging	1.00
R4731:Kif26a	UTSW	12	112,142,007 (GRCm39)	missense	probably benign
R4732:Kif26a	UTSW	12	112,142,007 (GRCm39)	missense	probably benign
R4733:Kif26a	UTSW	12	112,142,007 (GRCm39)	missense	probably benign
R4908:Kif26a	UTSW	12	112,123,776 (GRCm39)	missense	probably damaging	1.00
R4946:Kif26a	UTSW	12	112,144,228 (GRCm39)	missense	probably damaging	0.99
R5566:Kif26a	UTSW	12	112,123,788 (GRCm39)	missense	probably damaging	1.00
R6280:Kif26a	UTSW	12	112,141,303 (GRCm39)	missense	probably damaging	0.99
R6422:Kif26a	UTSW	12	112,135,309 (GRCm39)	missense	possibly damaging	0.95
R6513:Kif26a	UTSW	12	112,141,926 (GRCm39)	missense	probably damaging	0.97
R6860:Kif26a	UTSW	12	112,113,263 (GRCm39)	missense	probably damaging	1.00
R6879:Kif26a	UTSW	12	112,144,087 (GRCm39)	missense	probably benign
R7127:Kif26a	UTSW	12	112,144,579 (GRCm39)	missense	probably damaging	1.00
R7366:Kif26a	UTSW	12	112,129,976 (GRCm39)	critical splice donor site	probably null
R7595:Kif26a	UTSW	12	112,145,759 (GRCm39)	missense	probably benign	0.30
R7784:Kif26a	UTSW	12	112,144,581 (GRCm39)	missense	possibly damaging	0.66
R7992:Kif26a	UTSW	12	112,142,481 (GRCm39)	missense	probably benign
R8170:Kif26a	UTSW	12	112,141,752 (GRCm39)	splice site	probably null
R9206:Kif26a	UTSW	12	112,144,480 (GRCm39)	missense	possibly damaging	0.92
R9287:Kif26a	UTSW	12	112,145,719 (GRCm39)	nonsense	probably null
R9293:Kif26a	UTSW	12	112,112,835 (GRCm39)	missense	probably damaging	1.00
R9524:Kif26a	UTSW	12	112,140,286 (GRCm39)	missense	probably damaging	1.00
R9559:Kif26a	UTSW	12	112,142,004 (GRCm39)	missense	probably damaging	1.00
R9687:Kif26a	UTSW	12	112,143,625 (GRCm39)	missense	probably damaging	0.99
R9793:Kif26a	UTSW	12	112,142,887 (GRCm39)	missense	probably damaging	1.00
X0027:Kif26a	UTSW	12	112,142,504 (GRCm39)	missense	probably benign	0.26
Z1176:Kif26a	UTSW	12	112,144,052 (GRCm39)	missense	probably damaging	0.97
Z1177:Kif26a	UTSW	12	112,144,045 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGCATCCAGTTCCTCAGGAG -3'
(R):5'- CTCAGGTAACGAGGGTTTCC -3'

Sequencing Primer
(F):5'- TCCTGTGAGGAGGGCCGAG -3'
(R):5'- GTAACGAGGGTTTCCTGCCTC -3'

Posted On

2019-10-24