Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03409:Igkv18-36'

421721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igkv18-36

Ensembl Gene

ENSMUSG00000076572

Gene Name

immunoglobulin kappa chain variable 18-36

Synonyms

Gm16689

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.226) question?

Stock #

IGL03409

Quality Score

Status

Chromosome

Chromosomal Location

69969449-69969961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 69969589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 68 (H68Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100174 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103373] [ENSMUST00000200160]

AlphaFold

A0A075B5M9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103373
AA Change: H68Q

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100174
Gene: ENSMUSG00000076572
AA Change: H68Q

Domain	Start	End	E-Value	Type
IGv	37	109	3.76e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200160
AA Change: H67Q

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000142735
Gene: ENSMUSG00000076572
AA Change: H67Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	36	108	1.5e-19	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	A	T	8: 124,691,762 (GRCm39)	M401K	possibly damaging	Het
Ablim3	T	A	18: 61,978,922 (GRCm39)	H203L	probably damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aox1	T	G	1: 58,393,588 (GRCm39)	D1249E	possibly damaging	Het
Astn2	T	C	4: 65,353,423 (GRCm39)	I1116V	possibly damaging	Het
Atad3a	T	C	4: 155,831,807 (GRCm39)	D489G	probably damaging	Het
Caln1	G	T	5: 130,646,719 (GRCm39)	G52C	probably damaging	Het
Clcn7	A	G	17: 25,374,359 (GRCm39)	T467A	probably damaging	Het
Col17a1	A	T	19: 47,654,979 (GRCm39)	I599N	possibly damaging	Het
Cul2	T	A	18: 3,429,593 (GRCm39)	H547Q	probably damaging	Het
Cxcl14	T	C	13: 56,440,320 (GRCm39)	T80A	probably damaging	Het
Dscaml1	T	A	9: 45,581,401 (GRCm39)	Y407N	probably damaging	Het
Edc4	T	A	8: 106,611,748 (GRCm39)	I108N	probably damaging	Het
Exoc2	T	C	13: 31,124,720 (GRCm39)		probably benign	Het
Gm1110	T	G	9: 26,807,916 (GRCm39)	H290P	probably benign	Het
Gm16223	T	A	5: 42,225,336 (GRCm39)	W12R	unknown	Het
Herc2	C	A	7: 55,878,317 (GRCm39)	H4623Q	probably damaging	Het
Kif7	T	C	7: 79,357,301 (GRCm39)	E635G	probably benign	Het
Or2t47	T	C	11: 58,442,388 (GRCm39)	K226E	probably benign	Het
Or4c109	A	T	2: 88,817,931 (GRCm39)	I205N	possibly damaging	Het
Or52z13	T	A	7: 103,246,574 (GRCm39)	M17K	possibly damaging	Het
Or9m1b	A	T	2: 87,836,239 (GRCm39)	N285K	probably damaging	Het
Pam	C	A	1: 97,792,054 (GRCm39)	A456S	probably benign	Het
Pgap3	T	C	11: 98,289,764 (GRCm39)	T76A	possibly damaging	Het
Pkd2	C	A	5: 104,637,215 (GRCm39)	Y609*	probably null	Het
Plcg2	A	G	8: 118,310,234 (GRCm39)	D362G	probably damaging	Het
Polr3h	C	A	15: 81,801,595 (GRCm39)	A94S	probably benign	Het
Rhod	T	C	19: 4,482,186 (GRCm39)	D76G	probably damaging	Het
Rims2	T	C	15: 39,320,129 (GRCm39)	V670A	probably damaging	Het
Rpap3	G	A	15: 97,579,620 (GRCm39)	T464M	possibly damaging	Het
Rufy1	T	A	11: 50,297,310 (GRCm39)	I381L	probably benign	Het
Slc1a4	T	C	11: 20,256,506 (GRCm39)	T442A	probably damaging	Het
Slc9b1	T	C	3: 135,100,670 (GRCm39)	S472P	probably damaging	Het
Tmtc3	T	C	10: 100,287,294 (GRCm39)	T501A	possibly damaging	Het
Tnpo3	C	A	6: 29,555,181 (GRCm39)	D801Y	probably damaging	Het
Ttc39b	T	C	4: 83,179,193 (GRCm39)	Y111C	probably damaging	Het
Ubr4	A	T	4: 139,127,240 (GRCm39)	R543*	probably null	Het
Vmn1r74	T	G	7: 11,581,240 (GRCm39)	L180R	probably damaging	Het
Vps45	T	G	3: 95,960,401 (GRCm39)	E80A	probably benign	Het
Zfp677	T	C	17: 21,617,107 (GRCm39)	Y55H	probably damaging	Het
Zng1	A	G	19: 24,900,130 (GRCm39)	V289A	probably benign	Het

Other mutations in Igkv18-36

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4715:Igkv18-36	UTSW	6	69,969,575 (GRCm39)	missense	probably damaging	1.00
R5835:Igkv18-36	UTSW	6	69,969,512 (GRCm39)	missense	probably damaging	0.99
R8179:Igkv18-36	UTSW	6	69,969,479 (GRCm39)	missense	probably damaging	1.00
Z1088:Igkv18-36	UTSW	6	69,969,483 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02