Mutagenetix > Incidental Mutation

Incidental Mutation 'R1932:Kansl1'

215493

Institutional Source

Beutler Lab

Gene Symbol

Kansl1

Ensembl Gene

ENSMUSG00000018412

Gene Name

KAT8 regulatory NSL complex subunit 1

Synonyms

1700081L11Rik

MMRRC Submission

039950-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1932 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104224055-104359687 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104225923 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 998 (T998A)

Ref Sequence

ENSEMBL: ENSMUSP00000102590 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018556] [ENSMUST00000106971] [ENSMUST00000106972] [ENSMUST00000106977] [ENSMUST00000106992]

AlphaFold

Q80TG1

Predicted Effect

probably damaging
Transcript: ENSMUST00000018556
AA Change: T998A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000018556
Gene: ENSMUSG00000018412
AA Change: T998A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	759	772	N/A	INTRINSIC
PEHE	816	966	1.53e-53	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069188

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106971
AA Change: T1061A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102584
Gene: ENSMUSG00000018412
AA Change: T1061A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	822	835	N/A	INTRINSIC
PEHE	879	1029	1.53e-53	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106972
AA Change: T1061A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102585
Gene: ENSMUSG00000018412
AA Change: T1061A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	822	835	N/A	INTRINSIC
PEHE	879	1029	1.53e-53	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106977
AA Change: T998A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102590
Gene: ENSMUSG00000018412
AA Change: T998A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	164	175	N/A	INTRINSIC
low complexity region	245	256	N/A	INTRINSIC
coiled coil region	283	311	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	759	772	N/A	INTRINSIC
PEHE	816	966	1.53e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106992

SMART Domains

Protein: ENSMUSP00000102605
Gene: ENSMUSG00000018411

Domain	Start	End	E-Value	Type
low complexity region	69	81	N/A	INTRINSIC
low complexity region	105	154	N/A	INTRINSIC
Pfam:Tubulin-binding	174	205	6.1e-19	PFAM
Pfam:Tubulin-binding	206	236	1.5e-21	PFAM
Pfam:Tubulin-binding	237	267	6.9e-20	PFAM
Pfam:Tubulin-binding	268	299	4.7e-19	PFAM

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that is a subunit of two protein complexes involved with histone acetylation, the MLL1 complex and the NSL1 complex. The corresponding protein in Drosophila interacts with K(lysine) acetyltransferase 8, which is also a subunit of both the MLL1 and NSL1 complexes. [provided by RefSeq, Jun 2012]

Allele List at MGI

All alleles(136) : Gene trapped(136)

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,190,691 (GRCm39)	Q278H	probably benign	Het
Ace3	T	C	11: 105,895,436 (GRCm39)		probably null	Het
Aco1	T	C	4: 40,176,499 (GRCm39)	V221A	probably damaging	Het
Adamts20	T	A	15: 94,301,891 (GRCm39)	H27L	probably benign	Het
Adamts8	A	G	9: 30,867,808 (GRCm39)	D544G	probably benign	Het
Angptl4	C	A	17: 34,000,249 (GRCm39)	E40*	probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atf7ip2	T	A	16: 10,059,567 (GRCm39)	I369N	possibly damaging	Het
Atp6ap1l	T	A	13: 91,031,806 (GRCm39)	Y292F	probably damaging	Het
Atp6v1b2	A	T	8: 69,555,459 (GRCm39)	K217*	probably null	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Blvra	T	A	2: 126,937,068 (GRCm39)	W174R	probably damaging	Het
Catsperg1	C	T	7: 28,897,568 (GRCm39)	G239R	probably damaging	Het
Ccdc157	G	T	11: 4,096,549 (GRCm39)	A400D	probably damaging	Het
Chd2	G	T	7: 73,104,193 (GRCm39)	P1298T	probably damaging	Het
CK137956	G	A	4: 127,840,651 (GRCm39)	L352F	possibly damaging	Het
Col22a1	G	A	15: 71,741,989 (GRCm39)	P503S	unknown	Het
Cox15	C	T	19: 43,735,224 (GRCm39)	R181H	probably benign	Het
Crem	C	T	18: 3,299,284 (GRCm39)	G47R	probably benign	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Cts8	T	A	13: 61,401,429 (GRCm39)	H62L	probably damaging	Het
Cyp4a32	T	A	4: 115,468,474 (GRCm39)	F319I	possibly damaging	Het
Dchs1	T	C	7: 105,415,109 (GRCm39)	S692G	probably damaging	Het
Ddx23	G	A	15: 98,548,599 (GRCm39)	R370W	possibly damaging	Het
Defa29	A	T	8: 21,816,865 (GRCm39)	S43T	probably damaging	Het
Dnajc14	A	G	10: 128,652,661 (GRCm39)	D573G	probably damaging	Het
Drd5	A	G	5: 38,477,319 (GRCm39)	Y104C	probably benign	Het
Efcab7	C	T	4: 99,768,215 (GRCm39)	P102L	probably damaging	Het
Efhc1	A	G	1: 21,037,624 (GRCm39)	Y267C	probably damaging	Het
Eif2ak4	T	C	2: 118,278,967 (GRCm39)	Y243H	probably damaging	Het
Gfm2	T	A	13: 97,278,475 (GRCm39)	I7N	probably damaging	Het
Gmds	A	G	13: 32,311,980 (GRCm39)	F150L	possibly damaging	Het
Gp2	T	C	7: 119,053,455 (GRCm39)	T169A	possibly damaging	Het
Grb14	A	G	2: 64,743,146 (GRCm39)	F508L	probably damaging	Het
Hdac5	T	A	11: 102,086,698 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,450,066 (GRCm39)	M620K	probably damaging	Het
Herc3	A	G	6: 58,853,778 (GRCm39)	E608G	probably damaging	Het
Hoxb4	T	C	11: 96,210,867 (GRCm39)	Y156H	probably damaging	Het
Ifi205	T	A	1: 173,855,980 (GRCm39)	I17F	possibly damaging	Het
Il2rb	A	T	15: 78,375,977 (GRCm39)	S25T	possibly damaging	Het
Kcna6	G	T	6: 126,715,451 (GRCm39)	H479Q	probably benign	Het
Kif2a	T	C	13: 107,114,599 (GRCm39)	K350R	probably benign	Het
Lct	G	T	1: 128,221,898 (GRCm39)	A1547E	probably damaging	Het
Lhx9	T	A	1: 138,769,747 (GRCm39)		probably benign	Het
Lingo1	T	A	9: 56,526,934 (GRCm39)	I552F	possibly damaging	Het
Lrp4	G	A	2: 91,327,700 (GRCm39)	W1516*	probably null	Het
Lrp5	C	T	19: 3,660,131 (GRCm39)	V978I	probably benign	Het
Ltbp1	T	A	17: 75,620,029 (GRCm39)	D719E	probably benign	Het
Ltbp4	A	G	7: 27,007,191 (GRCm39)		probably null	Het
Macf1	A	G	4: 123,345,830 (GRCm39)	I1326T	probably damaging	Het
Manba	T	C	3: 135,250,501 (GRCm39)	F376S	probably benign	Het
Mink1	T	C	11: 70,499,254 (GRCm39)		probably null	Het
Nfatc2ip	C	T	7: 125,984,164 (GRCm39)	V410I	probably damaging	Het
Nlrp1b	A	T	11: 71,072,964 (GRCm39)	I293N	probably damaging	Het
Or10aa3	T	C	1: 173,878,244 (GRCm39)	Y102H	probably damaging	Het
Otol1	A	C	3: 69,935,437 (GRCm39)	E476D	probably benign	Het
Pcdhb4	C	T	18: 37,442,594 (GRCm39)	P635S	probably benign	Het
Pfkfb4	T	A	9: 108,828,237 (GRCm39)	F91I	probably damaging	Het
Polq	G	A	16: 36,882,666 (GRCm39)	R1610Q	possibly damaging	Het
Polr3c	A	T	3: 96,626,614 (GRCm39)	L270H	probably damaging	Het
Ppp1r15b	C	T	1: 133,059,363 (GRCm39)		probably benign	Het
Prkca	T	G	11: 108,082,975 (GRCm39)	D90A	probably benign	Het
Sall3	T	C	18: 81,012,968 (GRCm39)	D1156G	probably benign	Het
Scn7a	A	T	2: 66,506,446 (GRCm39)	L1481H	probably damaging	Het
Selenon	A	T	4: 134,271,929 (GRCm39)	I292N	probably damaging	Het
Sema6d	T	A	2: 124,501,806 (GRCm39)		probably null	Het
Sgpp1	G	T	12: 75,762,953 (GRCm39)	Y409*	probably null	Het
Sh3pxd2a	A	G	19: 47,255,947 (GRCm39)	S924P	probably benign	Het
Slc25a13	A	G	6: 6,042,264 (GRCm39)	V638A	probably benign	Het
Snhg11	T	C	2: 158,218,746 (GRCm39)		probably benign	Het
Sorbs2	A	G	8: 46,249,389 (GRCm39)	Q800R	probably benign	Het
Srf	C	A	17: 46,860,912 (GRCm39)	G401C	probably damaging	Het
Stradb	A	C	1: 59,030,264 (GRCm39)	N173H	probably benign	Het
Swap70	C	T	7: 109,878,470 (GRCm39)	A480V	possibly damaging	Het
Sycp2	A	G	2: 178,023,750 (GRCm39)	V422A	probably damaging	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet3	T	C	6: 83,381,361 (GRCm39)	N269S	possibly damaging	Het
Thap12	A	T	7: 98,366,045 (GRCm39)	I738F	possibly damaging	Het
Tiam2	C	T	17: 3,565,000 (GRCm39)	R1413C	possibly damaging	Het
Tmem229a	A	T	6: 24,955,010 (GRCm39)	F248Y	probably damaging	Het
Tmprss7	G	A	16: 45,504,956 (GRCm39)	Q145*	probably null	Het
Tnc	A	T	4: 63,911,262 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,508,797 (GRCm39)	Y21N	probably damaging	Het
Tpr	A	G	1: 150,297,414 (GRCm39)	D1009G	probably benign	Het
Trpm2	G	A	10: 77,776,992 (GRCm39)	A435V	probably damaging	Het
Ubr3	T	A	2: 69,783,820 (GRCm39)		probably null	Het
Vcan	T	C	13: 89,853,653 (GRCm39)	N436D	possibly damaging	Het
Vmn2r104	T	A	17: 20,261,031 (GRCm39)	Y464F	probably damaging	Het
Vmn2r44	T	A	7: 8,370,981 (GRCm39)	R688S	probably benign	Het
Wdr74	G	T	19: 8,715,311 (GRCm39)	V157L	probably benign	Het
Wnt7a	T	A	6: 91,371,530 (GRCm39)	D144V	probably benign	Het
Zfp106	C	T	2: 120,362,162 (GRCm39)	A986T	possibly damaging	Het

Other mutations in Kansl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Kansl1	APN	11	104,315,292 (GRCm39)	missense	probably damaging	0.96
IGL00658:Kansl1	APN	11	104,248,352 (GRCm39)	missense	probably benign	0.10
IGL00688:Kansl1	APN	11	104,315,892 (GRCm39)	missense	probably damaging	1.00
IGL01121:Kansl1	APN	11	104,226,422 (GRCm39)	missense	probably benign	0.01
IGL01624:Kansl1	APN	11	104,315,378 (GRCm39)	missense	probably benign	0.13
IGL02187:Kansl1	APN	11	104,269,657 (GRCm39)	splice site	probably null
IGL02711:Kansl1	APN	11	104,226,401 (GRCm39)	missense	probably damaging	1.00
IGL02965:Kansl1	APN	11	104,225,991 (GRCm39)	missense	probably damaging	0.99
kansas	UTSW	11	104,314,958 (GRCm39)	missense	possibly damaging	0.94
wichita	UTSW	11	104,247,593 (GRCm39)	missense	possibly damaging	0.90
NA:Kansl1	UTSW	11	104,233,193 (GRCm39)	missense	probably benign	0.09
R0399:Kansl1	UTSW	11	104,314,958 (GRCm39)	missense	possibly damaging	0.94
R0611:Kansl1	UTSW	11	104,229,012 (GRCm39)	missense	probably benign	0.31
R0665:Kansl1	UTSW	11	104,234,364 (GRCm39)	missense	probably benign
R0667:Kansl1	UTSW	11	104,234,364 (GRCm39)	missense	probably benign
R0747:Kansl1	UTSW	11	104,233,802 (GRCm39)	missense	probably benign	0.00
R0865:Kansl1	UTSW	11	104,315,194 (GRCm39)	missense	probably benign	0.08
R1479:Kansl1	UTSW	11	104,233,242 (GRCm39)	missense	probably damaging	1.00
R1679:Kansl1	UTSW	11	104,314,822 (GRCm39)	missense	probably damaging	1.00
R1818:Kansl1	UTSW	11	104,233,283 (GRCm39)	missense	possibly damaging	0.80
R1922:Kansl1	UTSW	11	104,234,466 (GRCm39)	missense	probably damaging	1.00
R2105:Kansl1	UTSW	11	104,226,385 (GRCm39)	missense	probably damaging	0.98
R2907:Kansl1	UTSW	11	104,315,286 (GRCm39)	missense	possibly damaging	0.82
R3935:Kansl1	UTSW	11	104,234,369 (GRCm39)	missense	possibly damaging	0.83
R3936:Kansl1	UTSW	11	104,234,369 (GRCm39)	missense	possibly damaging	0.83
R4282:Kansl1	UTSW	11	104,269,515 (GRCm39)	missense	probably benign	0.19
R4455:Kansl1	UTSW	11	104,315,184 (GRCm39)	missense	possibly damaging	0.47
R4696:Kansl1	UTSW	11	104,247,593 (GRCm39)	missense	possibly damaging	0.90
R4846:Kansl1	UTSW	11	104,233,798 (GRCm39)	missense	possibly damaging	0.48
R4890:Kansl1	UTSW	11	104,233,868 (GRCm39)	missense	probably benign
R4973:Kansl1	UTSW	11	104,315,147 (GRCm39)	missense	probably damaging	1.00
R4975:Kansl1	UTSW	11	104,226,390 (GRCm39)	missense	probably damaging	1.00
R5085:Kansl1	UTSW	11	104,315,168 (GRCm39)	missense	probably damaging	1.00
R5227:Kansl1	UTSW	11	104,247,640 (GRCm39)	missense	probably benign	0.19
R5310:Kansl1	UTSW	11	104,315,684 (GRCm39)	missense	possibly damaging	0.95
R5652:Kansl1	UTSW	11	104,228,992 (GRCm39)	missense	probably damaging	1.00
R5677:Kansl1	UTSW	11	104,225,974 (GRCm39)	missense	probably benign	0.00
R5980:Kansl1	UTSW	11	104,234,463 (GRCm39)	missense	possibly damaging	0.96
R6013:Kansl1	UTSW	11	104,241,465 (GRCm39)	missense	probably benign	0.00
R6253:Kansl1	UTSW	11	104,248,352 (GRCm39)	missense	probably benign	0.10
R7751:Kansl1	UTSW	11	104,314,890 (GRCm39)	missense	probably benign	0.30
R7880:Kansl1	UTSW	11	104,314,979 (GRCm39)	missense	probably damaging	1.00
R7888:Kansl1	UTSW	11	104,233,248 (GRCm39)	missense	probably benign	0.00
R7935:Kansl1	UTSW	11	104,315,112 (GRCm39)	missense	probably damaging	0.99
R8251:Kansl1	UTSW	11	104,315,186 (GRCm39)	missense	probably benign
R9033:Kansl1	UTSW	11	104,248,356 (GRCm39)	missense	probably benign	0.00
R9192:Kansl1	UTSW	11	104,227,142 (GRCm39)	missense	probably damaging	1.00
R9494:Kansl1	UTSW	11	104,247,566 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGCTCAGGTGTGACATG -3'
(R):5'- TCCCCAAGTTTGAGGTCAGG -3'

Sequencing Primer
(F):5'- TGCTCAGGTGTGACATGAAAAC -3'
(R):5'- GGCCTTGGCTCTGGAAACTG -3'

Posted On

2014-07-14