Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01533:Tspan14'

89844

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tspan14

Ensembl Gene

ENSMUSG00000037824

Gene Name

tetraspanin 14

Synonyms

Tm4sf14, D14Ertd226e

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01533

Quality Score

Status

Chromosome

Chromosomal Location

40628402-40688764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40638776 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 88 (I88T)

Ref Sequence

ENSEMBL: ENSMUSP00000153208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047652] [ENSMUST00000224209]

AlphaFold

Q8QZY6

Predicted Effect

probably benign
Transcript: ENSMUST00000047652
AA Change: I88T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000035263
Gene: ENSMUSG00000037824
AA Change: I88T

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	13	261	4.4e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224209
AA Change: I88T

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224349

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
Afg3l2	C	A	18: 67,538,488 (GRCm39)	E757*	probably null	Het
Arhgap15	T	C	2: 44,133,165 (GRCm39)	V357A	probably damaging	Het
Asb13	T	C	13: 3,692,164 (GRCm39)	V48A	probably benign	Het
Bbs7	T	C	3: 36,664,384 (GRCm39)	R74G	possibly damaging	Het
Capn11	T	C	17: 45,943,830 (GRCm39)	H568R	probably benign	Het
Cbx5	T	C	15: 103,114,061 (GRCm39)	E61G	probably damaging	Het
Ccdc158	T	C	5: 92,757,815 (GRCm39)		probably null	Het
Col14a1	C	A	15: 55,284,236 (GRCm39)	N832K	unknown	Het
Cyp2a4	A	T	7: 26,007,969 (GRCm39)	K125N	probably damaging	Het
Dhx16	T	C	17: 36,192,939 (GRCm39)	L215P	probably damaging	Het
Dtx4	T	C	19: 12,455,579 (GRCm39)	M480V	possibly damaging	Het
Edaradd	A	G	13: 12,493,463 (GRCm39)		probably benign	Het
Galnt13	T	A	2: 54,770,144 (GRCm39)	M312K	probably damaging	Het
Gcdh	T	A	8: 85,615,991 (GRCm39)	R337W	probably damaging	Het
Gm28557	A	T	13: 67,219,396 (GRCm39)	C109*	probably null	Het
Gpr22	C	T	12: 31,758,709 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,502,395 (GRCm39)	L379F	probably damaging	Het
Gxylt2	T	C	6: 100,760,098 (GRCm39)	L211P	probably damaging	Het
Igsf10	T	A	3: 59,226,651 (GRCm39)	I2341F	probably damaging	Het
Macf1	T	C	4: 123,367,666 (GRCm39)	D2365G	probably damaging	Het
Morc2b	A	G	17: 33,354,695 (GRCm39)		probably benign	Het
Ncoa3	T	C	2: 165,896,945 (GRCm39)	S579P	probably benign	Het
Nlgn1	T	C	3: 25,490,527 (GRCm39)	N400S	possibly damaging	Het
Or5w17	C	A	2: 87,583,412 (GRCm39)	R308S	probably benign	Het
Or8g17	C	T	9: 38,930,097 (GRCm39)	A247T	probably damaging	Het
Pi4ka	A	G	16: 17,126,065 (GRCm39)	S1102P	probably benign	Het
Polr1e	A	G	4: 45,019,328 (GRCm39)	Y59C	probably damaging	Het
Prex2	C	T	1: 11,256,965 (GRCm39)	Q1226*	probably null	Het
Rab12	A	T	17: 66,804,430 (GRCm39)	I176K	probably damaging	Het
Ryr2	A	T	13: 11,736,676 (GRCm39)	N2250K	probably damaging	Het
Sbf1	T	C	15: 89,172,919 (GRCm39)	T1865A	probably damaging	Het
Sema6b	G	A	17: 56,436,499 (GRCm39)		probably benign	Het
Smarcb1	C	T	10: 75,752,602 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,722,511 (GRCm39)	L845S	probably damaging	Het
Stat4	T	A	1: 52,137,578 (GRCm39)	N456K	probably damaging	Het
Tex264	A	G	9: 106,550,798 (GRCm39)	I133T	probably benign	Het
Thoc1	T	C	18: 9,962,376 (GRCm39)	V87A	probably benign	Het
Tmem131	C	T	1: 36,857,803 (GRCm39)	D778N	probably damaging	Het
Ttn	C	A	2: 76,562,918 (GRCm39)	V28679L	possibly damaging	Het
Ttn	A	G	2: 76,782,285 (GRCm39)	S984P	probably damaging	Het
Vangl1	T	C	3: 102,070,667 (GRCm39)	E423G	possibly damaging	Het

Other mutations in Tspan14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT1430001:Tspan14	UTSW	14	40,637,488 (GRCm39)	missense	probably damaging	0.98
R0471:Tspan14	UTSW	14	40,637,353 (GRCm39)	missense	probably damaging	1.00
R1934:Tspan14	UTSW	14	40,656,209 (GRCm39)	missense	probably damaging	1.00
R6213:Tspan14	UTSW	14	40,635,372 (GRCm39)	missense	probably benign	0.03
R6909:Tspan14	UTSW	14	40,635,398 (GRCm39)	missense	probably benign	0.02
R7716:Tspan14	UTSW	14	40,633,090 (GRCm39)	missense	probably damaging	0.96
R8401:Tspan14	UTSW	14	40,630,049 (GRCm39)	missense	probably benign	0.03

Posted On

2013-12-03