Mutagenetix > Incidental Mutations

Incidental Mutation 'R7595:Kif26a'

587689

Institutional Source

Beutler Lab

Gene Symbol

Kif26a

Ensembl Gene

ENSMUSG00000021294

Gene Name

kinesin family member 26A

Synonyms

N-11 kinesin

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7595 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

112146208-112181747 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 112179325 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1757 (P1757S)

Ref Sequence

ENSEMBL: ENSMUSP00000119482 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128402
AA Change: P1757S

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119482
Gene: ENSMUSG00000021294
AA Change: P1757S

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

Coding Region Coverage

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

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930516K23Rik	T	C	7: 104,059,263	E113G	probably damaging	Het
Adamts16	A	G	13: 70,730,115	F1177S	probably damaging	Het
Alox12	T	A	11: 70,242,404	E658V	probably damaging	Het
Anxa6	C	A	11: 54,985,085	V591L	probably benign	Het
Atp6ap1l	A	T	13: 90,891,016	S141T	probably damaging	Het
Bcar1	A	C	8: 111,720,993	N117K	probably benign	Het
Cdh22	A	G	2: 165,112,463	S713P	probably benign	Het
Cideb	T	C	14: 55,754,804	D144G	probably damaging	Het
Coch	T	A	12: 51,598,233	V190D	probably damaging	Het
Cyp4a12a	C	A	4: 115,331,892	L473M	probably damaging	Het
Dennd1c	A	C	17: 57,071,633	L331R	probably damaging	Het
Dthd1	A	G	5: 62,818,715	D244G	probably benign	Het
Dytn	T	C	1: 63,659,002	E282G	probably damaging	Het
Eml4	A	G	17: 83,456,084	Q576R	probably benign	Het
Fa2h	T	A	8: 111,355,490	I175F	probably benign	Het
Fv1	A	G	4: 147,870,170	T398A	possibly damaging	Het
Ggh	C	G	4: 20,049,833	S88C	probably damaging	Het
Gm4778	A	G	3: 94,266,678	E327G	probably benign	Het
Gm5286	A	G	3: 94,198,417	D14G	probably benign	Het
Gm5592	A	G	7: 41,286,443	D123G	probably damaging	Het
Golph3l	A	G	3: 95,609,783	T201A	probably benign	Het
Ikbip	A	G	10: 91,096,585	S364G	probably benign	Het
Kcnc3	G	A	7: 44,591,469	R195H	probably damaging	Het
Kdm5b	T	A	1: 134,608,966	D641E	probably benign	Het
Klf14	T	C	6: 30,958,540	K53R	probably benign	Het
Klk1b4	A	G	7: 44,210,708	D82G	probably benign	Het
Ly75	A	G	2: 60,293,827	F1702S	probably benign	Het
Mfsd4b1	A	T	10: 40,003,225	Y225*	probably null	Het
Olfr44	A	C	9: 39,484,315	F313V	probably benign	Het
Pcsk4	T	A	10: 80,322,101	D601V	possibly damaging	Het
Pkhd1l1	T	A	15: 44,495,521	D375E	probably damaging	Het
Primpol	A	G	8: 46,610,615	L2S	probably benign	Het
Ralgapb	G	A	2: 158,426,165	V63I	possibly damaging	Het
Rptor	T	A	11: 119,743,953	N198K	possibly damaging	Het
Samd5	T	C	10: 9,628,994	N172S	probably benign	Het
Sorbs1	A	T	19: 40,314,653	H542Q	probably damaging	Het
Srgn	T	A	10: 62,508,006		probably benign	Het
Taar6	C	T	10: 23,985,070	V193I	probably benign	Het
Tmem132a	G	A	19: 10,858,205	A987V	probably damaging	Het
Trank1	T	C	9: 111,365,991	Y1028H	probably damaging	Het
Ttc21a	T	C	9: 119,958,069	L714P	probably benign	Het
Wdfy4	C	T	14: 32,974,154		probably null	Het
Zswim9	T	C	7: 13,261,072	D386G	probably benign	Het
Zwilch	A	G	9: 64,149,264		probably benign	Het

Other mutations in Kif26a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Kif26a	APN	12	112157632	missense	probably damaging	0.97
IGL01734:Kif26a	APN	12	112176828	missense	probably benign	0.23
IGL01916:Kif26a	APN	12	112176894	missense	possibly damaging	0.49
IGL02080:Kif26a	APN	12	112157566	missense	probably damaging	1.00
IGL02138:Kif26a	APN	12	112174850	missense	probably damaging	1.00
IGL02145:Kif26a	APN	12	112176975	missense	probably benign	0.00
IGL02285:Kif26a	APN	12	112157507	missense	probably damaging	1.00
IGL02393:Kif26a	APN	12	112172664	missense	probably damaging	1.00
IGL02445:Kif26a	APN	12	112173743	missense	probably damaging	1.00
IGL02865:Kif26a	APN	12	112177615	nonsense	probably null
IGL03057:Kif26a	APN	12	112175774	nonsense	probably null
IGL03204:Kif26a	APN	12	112174779	missense	probably damaging	1.00
R0013:Kif26a	UTSW	12	112177880	missense	probably benign	0.03
R0034:Kif26a	UTSW	12	112168963	splice site	probably benign
R0089:Kif26a	UTSW	12	112177403	missense	probably damaging	0.98
R0111:Kif26a	UTSW	12	112163337	splice site	probably benign
R0220:Kif26a	UTSW	12	112157390	missense	probably damaging	0.98
R0346:Kif26a	UTSW	12	112179348	missense	probably null	0.09
R0383:Kif26a	UTSW	12	112178076	missense	possibly damaging	0.94
R0478:Kif26a	UTSW	12	112175789	missense	probably damaging	1.00
R0494:Kif26a	UTSW	12	112179471	splice site	probably null
R1163:Kif26a	UTSW	12	112179945	missense	probably benign	0.08
R1450:Kif26a	UTSW	12	112173852	missense	probably damaging	1.00
R1512:Kif26a	UTSW	12	112146955	missense	possibly damaging	0.47
R1616:Kif26a	UTSW	12	112157246	critical splice acceptor site	probably null
R1723:Kif26a	UTSW	12	112173858	missense	possibly damaging	0.67
R1728:Kif26a	UTSW	12	112176785	missense	possibly damaging	0.95
R1729:Kif26a	UTSW	12	112176785	missense	possibly damaging	0.95
R1903:Kif26a	UTSW	12	112175540	missense	probably damaging	1.00
R2283:Kif26a	UTSW	12	112177353	missense	possibly damaging	0.66
R3862:Kif26a	UTSW	12	112179889	missense	probably benign	0.30
R3906:Kif26a	UTSW	12	112176890	missense	probably benign
R4050:Kif26a	UTSW	12	112179916	missense	probably benign	0.08
R4270:Kif26a	UTSW	12	112173414	missense	probably damaging	1.00
R4271:Kif26a	UTSW	12	112173414	missense	probably damaging	1.00
R4731:Kif26a	UTSW	12	112175573	missense	probably benign
R4732:Kif26a	UTSW	12	112175573	missense	probably benign
R4733:Kif26a	UTSW	12	112175573	missense	probably benign
R4908:Kif26a	UTSW	12	112157342	missense	probably damaging	1.00
R4946:Kif26a	UTSW	12	112177794	missense	probably damaging	0.99
R5566:Kif26a	UTSW	12	112157354	missense	probably damaging	1.00
R6280:Kif26a	UTSW	12	112174869	missense	probably damaging	0.99
R6422:Kif26a	UTSW	12	112168875	missense	possibly damaging	0.95
R6513:Kif26a	UTSW	12	112175492	missense	probably damaging	0.97
R6860:Kif26a	UTSW	12	112146829	missense	probably damaging	1.00
R6879:Kif26a	UTSW	12	112177653	missense	probably benign
R7127:Kif26a	UTSW	12	112178145	missense	probably damaging	1.00
R7366:Kif26a	UTSW	12	112163542	critical splice donor site	probably null
R7630:Kif26a	UTSW	12	112175697	missense	probably damaging	1.00
R7784:Kif26a	UTSW	12	112178147	missense	possibly damaging	0.66
R7992:Kif26a	UTSW	12	112176047	missense	probably benign
R8170:Kif26a	UTSW	12	112175318	splice site	probably null
X0027:Kif26a	UTSW	12	112176070	missense	probably benign	0.26
Z1176:Kif26a	UTSW	12	112177618	missense	probably damaging	0.97
Z1177:Kif26a	UTSW	12	112177611	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGTGATGTGGCTAGACACC -3'
(R):5'- ATGTTCAGGCGGTTCCTAC -3'

Sequencing Primer
(F):5'- TTCAGGTCTACAGCGGAGG -3'
(R):5'- CCTTCTCTGCGTCCTGGGAG -3'

Posted On

2019-10-24