Mutagenetix > Incidental Mutation

Incidental Mutation 'R9192:Klhdc10'

697742

Institutional Source

Beutler Lab

Gene Symbol

Klhdc10

Ensembl Gene

ENSMUSG00000029775

Gene Name

kelch domain containing 10

Synonyms

2410127E18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9192 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30401867-30455178 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30449499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 327 (I327N)

Ref Sequence

ENSEMBL: ENSMUSP00000069669 (fasta)

Gene Model

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

AlphaFold

Q6PAR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000068240
AA Change: I298N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064594
Gene: ENSMUSG00000029775
AA Change: I298N

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 damaging
Transcript: ENSMUST00000068259
AA Change: I327N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069669
Gene: ENSMUSG00000029775
AA Change: I327N

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 damaging
Transcript: ENSMUST00000132581
AA Change: I245N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143839
Gene: ENSMUSG00000029775
AA Change: I245N

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

probably damaging
Transcript: ENSMUST00000144272
AA Change: I187N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145063
Gene: ENSMUSG00000029775
AA Change: I187N

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,354,249 (GRCm39)	M71K	probably benign	Het
Angptl4	C	T	17: 34,000,285 (GRCm39)	A28T	probably benign	Het
Baz1b	T	G	5: 135,239,648 (GRCm39)	N249K	possibly damaging	Het
BC035947	A	T	1: 78,475,877 (GRCm39)	Y218*	probably null	Het
Ctbp1	T	C	5: 33,408,333 (GRCm39)	I211V	probably benign	Het
Dars1	T	C	1: 128,299,889 (GRCm39)	E365G	probably benign	Het
E2f7	G	T	10: 110,599,851 (GRCm39)	R202L	probably damaging	Het
Fscb	A	C	12: 64,520,890 (GRCm39)	I192S	possibly damaging	Het
Fsip2	A	G	2: 82,817,844 (GRCm39)	I4526V	probably benign	Het
Gucy2e	A	T	11: 69,127,303 (GRCm39)	F57I	probably damaging	Het
Hcar2	A	T	5: 124,003,354 (GRCm39)	C50S	possibly damaging	Het
Herc1	G	A	9: 66,321,413 (GRCm39)	V1267I	probably benign	Het
Kansl1	A	T	11: 104,227,142 (GRCm39)	D845E	probably damaging	Het
Kdm2b	T	A	5: 123,070,679 (GRCm39)	T473S	probably benign	Het
Kmt5b	T	C	19: 3,854,442 (GRCm39)	L235P	probably damaging	Het
Lama2	C	T	10: 27,204,181 (GRCm39)	E486K	possibly damaging	Het
Lhx6	A	T	2: 35,981,145 (GRCm39)	W266R	probably benign	Het
Mettl15	A	T	2: 109,104,810 (GRCm39)	L65*	probably null	Het
Mocos	A	G	18: 24,812,594 (GRCm39)	Q496R	probably benign	Het
Neb	T	C	2: 52,203,847 (GRCm39)	S285G	probably damaging	Het
Nos3	A	G	5: 24,582,611 (GRCm39)	N613S	probably benign	Het
Nphs2	G	A	1: 156,138,386 (GRCm39)	R10Q	probably benign	Het
Or2ag16	A	G	7: 106,352,430 (GRCm39)	L55P	probably damaging	Het
Or4x13	C	A	2: 90,231,716 (GRCm39)	T237N	probably damaging	Het
Or51i2	A	T	7: 103,689,875 (GRCm39)	I291F	possibly damaging	Het
Osbpl10	T	C	9: 114,996,294 (GRCm39)	C119R	probably damaging	Het
Otop1	T	C	5: 38,445,274 (GRCm39)	V144A	probably benign	Het
Ovca2	A	G	11: 75,068,862 (GRCm39)	V179A	possibly damaging	Het
Pcdha11	A	G	18: 37,140,527 (GRCm39)	T719A	probably benign	Het
Pcdhga1	A	G	18: 37,973,084 (GRCm39)	N900D	probably damaging	Het
Pcdhga8	A	T	18: 37,859,163 (GRCm39)	Q73L	probably damaging	Het
Pclo	A	G	5: 14,590,204 (GRCm39)	K835E	unknown	Het
Psmd2	T	A	16: 20,473,412 (GRCm39)	Y158N	probably damaging	Het
Pygl	A	G	12: 70,243,822 (GRCm39)	V631A	probably damaging	Het
Rhoq	A	T	17: 87,304,405 (GRCm39)	I179F		Het
Rnf26rt	T	C	6: 76,473,566 (GRCm39)	D350G	probably benign	Het
Rps6kb1	T	C	11: 86,404,381 (GRCm39)	I257M	probably damaging	Het
Sall3	G	A	18: 81,017,124 (GRCm39)	A268V	probably benign	Het
Serinc4	G	A	2: 121,287,250 (GRCm39)		probably benign	Het
Slc27a2	T	A	2: 126,429,807 (GRCm39)	M605K	probably damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Slc6a7	A	G	18: 61,133,649 (GRCm39)	Y516H	probably damaging	Het
Spag16	A	G	1: 69,963,007 (GRCm39)	T385A	unknown	Het
Stat6	G	A	10: 127,493,479 (GRCm39)	R600H	probably damaging	Het
Stk32b	A	G	5: 37,786,344 (GRCm39)	V40A	probably damaging	Het
Sv2c	T	A	13: 96,224,755 (GRCm39)	I185L	probably benign	Het
Syne2	T	A	12: 76,156,703 (GRCm39)	L2115H	probably damaging	Het
Tas2r121	T	C	6: 132,677,492 (GRCm39)	E160G	probably benign	Het
Tle1	G	T	4: 72,036,753 (GRCm39)	T727K	probably benign	Het
Tmem79	A	T	3: 88,240,764 (GRCm39)	D61E	probably benign	Het
Tnrc18	C	A	5: 142,773,602 (GRCm39)	R409L		Het
Tnrc6a	C	A	7: 122,789,176 (GRCm39)	P1665Q	probably damaging	Het
Tns2	C	A	15: 102,021,416 (GRCm39)	P1027Q	probably damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Ttn	A	G	2: 76,745,255 (GRCm39)	S5265P	possibly damaging	Het
Tuba1c	T	A	15: 98,935,737 (GRCm39)	Y399*	probably null	Het
Vav2	A	T	2: 27,172,394 (GRCm39)	I504N	probably damaging	Het
Vmn2r5	G	T	3: 64,398,938 (GRCm39)	C680*	probably null	Het
Zfp644	G	C	5: 106,785,829 (GRCm39)	S239R	probably benign	Het
Zfp954	C	T	7: 7,118,933 (GRCm39)	G204S	probably damaging	Het
Zswim8	C	T	14: 20,769,588 (GRCm39)	T1265I	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
R0379:Klhdc10	UTSW	6	30,450,669 (GRCm39)	missense	possibly damaging	0.89
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
R9747:Klhdc10	UTSW	6	30,439,859 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- CTAAAGTTCAAGCACTGGCAG -3'
(R):5'- AAGCAACTCTTCCCTGACTAGTC -3'

Sequencing Primer
(F):5'- ACTGGCAGTGTCTGTAACCGAG -3'
(R):5'- GACTAGTCTTCCTCACTACCTACAAC -3'

Posted On

2022-02-07