Mutagenetix > Incidental Mutation

Incidental Mutation 'R0379:Klhdc10'

30857

Institutional Source

Beutler Lab

Gene Symbol

Klhdc10

Ensembl Gene

ENSMUSG00000029775

Gene Name

kelch domain containing 10

Synonyms

2410127E18Rik

MMRRC Submission

038585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30401867-30455178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 30450669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Glutamic Acid at position 292 (Q292E)

Ref Sequence

ENSEMBL: ENSMUSP00000145063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068240] [ENSMUST00000068259] [ENSMUST00000123494] [ENSMUST00000132581] [ENSMUST00000144272]

AlphaFold

Q6PAR0

Predicted Effect

probably benign
Transcript: ENSMUST00000068240
AA Change: Q403E

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: Q403E

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
Pfam:Kelch_5	56	107	3.6e-7	PFAM
Pfam:Kelch_1	59	114	5.6e-8	PFAM
Pfam:Kelch_4	59	120	1.8e-7	PFAM
Pfam:Kelch_6	59	120	2.1e-8	PFAM
Pfam:Kelch_4	173	222	9.8e-9	PFAM
Pfam:Kelch_6	173	225	3.9e-9	PFAM
Pfam:Kelch_2	174	218	1.2e-7	PFAM
Pfam:Kelch_1	174	219	9.4e-8	PFAM
Kelch	239	294	4.93e0	SMART
Kelch	295	342	9.96e-4	SMART
low complexity region	373	384	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000068259
AA Change: Q432E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: Q432E

Domain	Start	End	E-Value	Type
low complexity region	11	35	N/A	INTRINSIC
Pfam:Kelch_5	85	135	1.2e-7	PFAM
Pfam:Kelch_1	88	143	2.6e-8	PFAM
Pfam:Kelch_4	88	149	1.5e-6	PFAM
Pfam:Kelch_6	88	150	3.1e-8	PFAM
Pfam:Kelch_6	202	255	4.6e-9	PFAM
Pfam:Kelch_2	203	247	1.4e-7	PFAM
Pfam:Kelch_1	203	248	2.6e-6	PFAM
Kelch	268	323	4.93e0	SMART
Kelch	324	371	9.96e-4	SMART
low complexity region	402	413	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123494

SMART Domains

Protein: ENSMUSP00000145442
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
Pfam:Kelch_4	62	110	1.2e-4	PFAM
Pfam:Kelch_6	62	115	5.2e-8	PFAM
Pfam:Kelch_2	63	107	1.6e-6	PFAM
Pfam:Kelch_1	63	108	3.1e-5	PFAM
Pfam:Kelch_1	116	157	2.1e-6	PFAM
Pfam:Kelch_6	116	157	8.8e-6	PFAM
Pfam:Kelch_4	122	157	3.7e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132581

SMART Domains

Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775

Domain	Start	End	E-Value	Type
low complexity region	3	35	N/A	INTRINSIC
Pfam:Kelch_2	121	165	1.1e-6	PFAM
Pfam:Kelch_6	121	173	2.4e-8	PFAM
Pfam:Kelch_1	123	166	2.1e-5	PFAM
Pfam:Kelch_4	123	168	9.8e-5	PFAM
Kelch	186	241	1.7e-2	SMART
Kelch	242	289	3.3e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144272
AA Change: Q292E

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: Q292E

Domain	Start	End	E-Value	Type
Pfam:Kelch_4	62	110	3.5e-4	PFAM
Pfam:Kelch_6	62	115	1.6e-7	PFAM
Pfam:Kelch_2	63	107	4.8e-6	PFAM
Pfam:Kelch_1	63	108	9.1e-5	PFAM
Kelch	128	183	1.7e-2	SMART
Kelch	184	231	3.3e-6	SMART
low complexity region	262	273	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150854

Meta Mutation Damage Score

0.1177

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	G	11: 11,539,365 (GRCm39)		probably benign	Het
Apba1	A	C	19: 23,912,194 (GRCm39)	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,702,320 (GRCm39)		probably null	Het
Arsb	T	C	13: 94,077,135 (GRCm39)	S501P	probably benign	Het
Atp10b	A	G	11: 43,145,141 (GRCm39)	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898 (GRCm39)	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,789 (GRCm39)	I126T	possibly damaging	Het
Brd9	T	C	13: 74,090,802 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,430 (GRCm39)		probably benign	Het
Chd5	A	G	4: 152,467,778 (GRCm39)	K1692R	probably benign	Het
Clcn4	T	C	7: 7,299,791 (GRCm39)	T13A	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,768,440 (GRCm39)	V97A	probably benign	Het
Col24a1	G	A	3: 145,229,897 (GRCm39)	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226 (GRCm39)	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,618,423 (GRCm39)	T180S	probably benign	Het
Cybrd1	T	C	2: 70,960,099 (GRCm39)	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,478,671 (GRCm39)	V468M	probably damaging	Het
Dlk1	A	G	12: 109,420,985 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,627,466 (GRCm39)		probably benign	Het
Dnah7b	A	T	1: 46,179,336 (GRCm39)	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,722,399 (GRCm39)	E376A	possibly damaging	Het
Etl4	T	A	2: 20,812,165 (GRCm39)	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106 (GRCm39)	T238A	probably benign	Het
Fer1l6	A	G	15: 58,420,187 (GRCm39)	I33M	probably benign	Het
Fndc3a	A	G	14: 72,794,049 (GRCm39)	S830P	probably damaging	Het
Fras1	C	T	5: 96,903,368 (GRCm39)	R3082*	probably null	Het
Galnt13	T	C	2: 54,950,504 (GRCm39)	V395A	possibly damaging	Het
Gpd2	C	T	2: 57,235,275 (GRCm39)	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,235,759 (GRCm39)		probably benign	Het
Ints5	G	T	19: 8,874,497 (GRCm39)	V819L	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,566 (GRCm39)	A67T	probably benign	Het
Lrp1	T	G	10: 127,430,838 (GRCm39)	T404P	probably damaging	Het
Marchf7	T	C	2: 60,064,470 (GRCm39)	S249P	probably benign	Het
Mcm10	T	A	2: 5,013,434 (GRCm39)	K66M	probably benign	Het
Mtmr7	C	A	8: 41,004,642 (GRCm39)	D645Y	probably damaging	Het
Muc6	T	A	7: 141,216,868 (GRCm39)	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,260,121 (GRCm39)		probably benign	Het
Myo18a	G	A	11: 77,741,632 (GRCm39)	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,406,695 (GRCm39)	L957S	probably damaging	Het
Ncoa3	T	C	2: 165,896,422 (GRCm39)	S442P	probably damaging	Het
Or5t5	G	A	2: 86,616,079 (GRCm39)	E2K	probably benign	Het
Or6x1	G	A	9: 40,098,729 (GRCm39)	G106D	probably damaging	Het
Or7g32	T	A	9: 19,388,776 (GRCm39)	T257S	possibly damaging	Het
Pdcd6	G	T	13: 74,457,831 (GRCm39)	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 108,856,810 (GRCm39)		probably benign	Het
Pfkm	A	G	15: 98,024,195 (GRCm39)	H401R	probably benign	Het
Phldb2	C	A	16: 45,601,814 (GRCm39)	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,902,195 (GRCm39)	M49K	probably damaging	Het
Polrmt	A	G	10: 79,573,445 (GRCm39)	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 35,035,077 (GRCm39)	N64S	probably benign	Het
Prss3l	T	G	6: 41,422,190 (GRCm39)		probably benign	Het
Psg16	T	C	7: 16,864,583 (GRCm39)	S393P	probably benign	Het
Rundc1	C	T	11: 101,315,973 (GRCm39)	T15I	probably benign	Het
Scaf11	A	G	15: 96,329,697 (GRCm39)	L143S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Serpinf1	T	G	11: 75,304,771 (GRCm39)	I197L	probably benign	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Slc28a1	G	A	7: 80,787,925 (GRCm39)	V271I	probably benign	Het
Sntg1	T	C	1: 8,853,048 (GRCm39)	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,059,161 (GRCm39)		probably benign	Het
Suclg1	T	C	6: 73,233,211 (GRCm39)	I51T	possibly damaging	Het
Syne1	C	T	10: 5,491,989 (GRCm39)	R9Q	probably damaging	Het
Trim47	T	A	11: 115,997,344 (GRCm39)	H470L	probably damaging	Het
Ttc41	T	A	10: 86,548,841 (GRCm39)	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 139,612,105 (GRCm39)	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,691,116 (GRCm39)	T474M	probably damaging	Het
Ubr5	A	T	15: 38,019,201 (GRCm39)	N777K	probably benign	Het
Ush2a	T	C	1: 188,184,016 (GRCm39)	L1440P	probably damaging	Het
Usp28	A	C	9: 48,935,367 (GRCm39)	D458A	possibly damaging	Het
Vcan	A	T	13: 89,851,665 (GRCm39)	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,490,773 (GRCm39)	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,434,344 (GRCm39)	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,948,401 (GRCm39)	I549N	probably damaging	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	Het
Zfp974	T	A	7: 27,610,357 (GRCm39)	N456I	probably damaging	Het

Other mutations in Klhdc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01743:Klhdc10	APN	6	30,441,933 (GRCm39)	splice site	probably null
IGL02313:Klhdc10	APN	6	30,439,865 (GRCm39)	critical splice donor site	probably null
IGL03353:Klhdc10	APN	6	30,447,991 (GRCm39)	splice site	probably benign
PIT4378001:Klhdc10	UTSW	6	30,447,411 (GRCm39)	missense	probably damaging	0.98
R0390:Klhdc10	UTSW	6	30,447,411 (GRCm39)	missense	probably damaging	0.98
R1199:Klhdc10	UTSW	6	30,449,493 (GRCm39)	missense	probably damaging	1.00
R1628:Klhdc10	UTSW	6	30,444,461 (GRCm39)	missense	probably damaging	0.98
R2243:Klhdc10	UTSW	6	30,449,558 (GRCm39)	missense	probably damaging	1.00
R2861:Klhdc10	UTSW	6	30,402,139 (GRCm39)	missense	unknown
R5007:Klhdc10	UTSW	6	30,450,640 (GRCm39)	missense	probably benign	0.05
R5574:Klhdc10	UTSW	6	30,439,864 (GRCm39)	missense	possibly damaging	0.92
R6428:Klhdc10	UTSW	6	30,439,855 (GRCm39)	missense	probably damaging	1.00
R6724:Klhdc10	UTSW	6	30,446,640 (GRCm39)	missense	probably damaging	0.99
R6842:Klhdc10	UTSW	6	30,439,781 (GRCm39)	missense	probably damaging	1.00
R6879:Klhdc10	UTSW	6	30,449,589 (GRCm39)	missense	probably damaging	1.00
R7014:Klhdc10	UTSW	6	30,450,502 (GRCm39)	missense	probably damaging	1.00
R7124:Klhdc10	UTSW	6	30,441,826 (GRCm39)	missense	probably damaging	1.00
R7453:Klhdc10	UTSW	6	30,447,989 (GRCm39)	critical splice donor site	probably null
R7988:Klhdc10	UTSW	6	30,446,690 (GRCm39)	missense	probably benign
R9192:Klhdc10	UTSW	6	30,449,499 (GRCm39)	missense	probably damaging	0.99
R9747:Klhdc10	UTSW	6	30,439,859 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CCATTTGTTCACAGGCTGGTTGC -3'
(R):5'- TCCCAGACCAAGAGTTGTTGTTGC -3'

Sequencing Primer
(F):5'- GACTGGGTCGCTGTTTAAGA -3'
(R):5'- AAGGGACTTTCAGACATTCCCTC -3'

Posted On

2013-04-24