Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02897:Smim14'

363458

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smim14

Ensembl Gene

ENSMUSG00000037822

Gene Name

small integral membrane protein 14

Synonyms

1110003E01Rik, MAd4, 5430439C17Rik, 1700127H04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL02897

Quality Score

Status

Chromosome

Chromosomal Location

65604187-65694492 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 65607739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040532] [ENSMUST00000121661] [ENSMUST00000139122] [ENSMUST00000196121]

AlphaFold

Q91VT8

Predicted Effect

probably benign
Transcript: ENSMUST00000040532

SMART Domains

Protein: ENSMUSP00000040511
Gene: ENSMUSG00000037822

Domain	Start	End	E-Value	Type
Pfam:DUF2615	1	91	1.2e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121661

SMART Domains

Protein: ENSMUSP00000113456
Gene: ENSMUSG00000037822

Domain	Start	End	E-Value	Type
Pfam:DUF2615	1	99	2.8e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135258

Predicted Effect

probably benign
Transcript: ENSMUST00000139122

SMART Domains

Protein: ENSMUSP00000122363
Gene: ENSMUSG00000037822

Domain	Start	End	E-Value	Type
Pfam:DUF2615	2	98	6.5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196121

SMART Domains

Protein: ENSMUSP00000143665
Gene: ENSMUSG00000105835

Domain	Start	End	E-Value	Type
Pfam:UDPG_MGDP_dh_N	5	50	6.4e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200111

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,467,308 (GRCm39)	E108D	probably benign	Het
Abca7	T	C	10: 79,837,426 (GRCm39)	F437L	probably damaging	Het
Abi2	T	C	1: 60,487,353 (GRCm39)	V134A	probably damaging	Het
Ablim2	T	C	5: 35,990,470 (GRCm39)	I75T	probably damaging	Het
Aldh1a3	A	G	7: 66,077,075 (GRCm39)	V29A	probably benign	Het
Bptf	T	C	11: 106,937,947 (GRCm39)	K2715E	probably damaging	Het
Cd163	A	T	6: 124,302,486 (GRCm39)	S1017C	probably damaging	Het
Cdc14b	T	C	13: 64,395,067 (GRCm39)	I76V	probably benign	Het
Cers6	T	A	2: 68,764,877 (GRCm39)	C63*	probably null	Het
Chd9	T	C	8: 91,660,496 (GRCm39)		probably benign	Het
Col19a1	T	C	1: 24,573,179 (GRCm39)	N198D	unknown	Het
Cse1l	T	C	2: 166,761,628 (GRCm39)	C61R	possibly damaging	Het
Cubn	T	C	2: 13,323,123 (GRCm39)	T2815A	possibly damaging	Het
Cyp19a1	G	T	9: 54,074,195 (GRCm39)	T453K	possibly damaging	Het
Dlg1	G	T	16: 31,590,674 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,243,684 (GRCm39)	Y339C	probably damaging	Het
Dtl	T	C	1: 191,273,656 (GRCm39)		probably benign	Het
Gm5591	T	C	7: 38,219,466 (GRCm39)	E469G	probably damaging	Het
Ing3	T	A	6: 21,969,325 (GRCm39)	V202E	probably benign	Het
Inpp5j	A	G	11: 3,450,619 (GRCm39)	L578P	probably damaging	Het
Irak4	A	G	15: 94,451,872 (GRCm39)	N155S	probably benign	Het
Kif2b	A	T	11: 91,467,045 (GRCm39)	S413T	probably damaging	Het
L3mbtl1	A	T	2: 162,807,692 (GRCm39)	Y490F	probably damaging	Het
Med17	T	G	9: 15,178,830 (GRCm39)	D447A	probably damaging	Het
Med26	T	C	8: 73,250,365 (GRCm39)	T245A	probably benign	Het
Nlrc3	A	T	16: 3,781,938 (GRCm39)	S490R	possibly damaging	Het
Nme5	A	G	18: 34,702,956 (GRCm39)		probably benign	Het
Or51aa5	T	C	7: 103,167,337 (GRCm39)	R85G	probably benign	Het
Rnf10	G	T	5: 115,386,700 (GRCm39)	Q530K	probably benign	Het
Robo3	A	T	9: 37,338,798 (GRCm39)	Y281*	probably null	Het
Sclt1	T	C	3: 41,629,822 (GRCm39)	I330V	probably benign	Het
Trank1	T	G	9: 111,196,585 (GRCm39)	H1536Q	probably damaging	Het
Tspan18	A	G	2: 93,050,518 (GRCm39)	L35P	possibly damaging	Het
Ubr4	G	A	4: 139,199,819 (GRCm39)	V4568M	probably damaging	Het
Vmn1r63	A	G	7: 5,805,744 (GRCm39)	V296A	possibly damaging	Het

Other mutations in Smim14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0724:Smim14	UTSW	5	65,610,682 (GRCm39)	intron	probably benign
R4829:Smim14	UTSW	5	65,617,946 (GRCm39)	intron	probably benign
R6364:Smim14	UTSW	5	65,610,639 (GRCm39)	missense	probably benign	0.00
R9283:Smim14	UTSW	5	65,625,780 (GRCm39)	missense	probably damaging	1.00
R9661:Smim14	UTSW	5	65,610,533 (GRCm39)	missense	possibly damaging	0.50

Posted On

2015-12-18