Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01022:Sfta2'

54061

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sfta2

Ensembl Gene

ENSMUSG00000090509

Gene Name

surfactant associated 2

Synonyms

EG433102

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01022

Quality Score

Status

Chromosome

Chromosomal Location

35960600-35961461 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35961336 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 74 (T74I)

Ref Sequence

ENSEMBL: ENSMUSP00000132839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171166] [ENSMUST00000174521]

AlphaFold

E9PXB6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171166
AA Change: T74I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000132839
Gene: ENSMUSG00000090509
AA Change: T74I

Domain	Start	End	E-Value	Type
low complexity region	3	17	N/A	INTRINSIC
Pfam:SFTA2	19	77	1.5e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173162

Predicted Effect

unknown
Transcript: ENSMUST00000174521
AA Change: T114I

SMART Domains

Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509
AA Change: T114I

Domain	Start	End	E-Value	Type
Pfam:SFTA2	80	117	9.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174534

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	A	G	10: 61,038,721 (GRCm39)	S927P	probably benign	Het
Arfgef1	G	T	1: 10,244,301 (GRCm39)	F987L	probably damaging	Het
Asph	A	T	4: 9,601,344 (GRCm39)	N191K	possibly damaging	Het
Bmpr1b	A	T	3: 141,577,099 (GRCm39)	C71S	probably damaging	Het
Bod1l	A	T	5: 41,951,652 (GRCm39)	S2920T	probably damaging	Het
Camta2	G	A	11: 70,562,308 (GRCm39)	R1030*	probably null	Het
Chd8	T	C	14: 52,474,450 (GRCm39)	T194A	probably benign	Het
Col9a3	A	T	2: 180,258,227 (GRCm39)	I549F	probably damaging	Het
Fstl4	A	G	11: 53,077,568 (GRCm39)	N775S	probably benign	Het
Gm10800	T	A	2: 98,497,576 (GRCm39)		probably benign	Het
Gm5117	T	A	8: 32,228,515 (GRCm39)		noncoding transcript	Het
Hap1	A	G	11: 100,240,374 (GRCm39)	L112P	probably benign	Het
Hcls1	C	A	16: 36,771,488 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,507,699 (GRCm39)		probably benign	Het
Lct	T	A	1: 128,228,596 (GRCm39)	I966L	probably benign	Het
Myo1h	A	T	5: 114,474,361 (GRCm39)	I451F	possibly damaging	Het
Notch4	G	A	17: 34,784,671 (GRCm39)	C128Y	probably damaging	Het
Oca2	T	A	7: 55,974,504 (GRCm39)	N484K	probably damaging	Het
Or51f1e	T	G	7: 102,747,077 (GRCm39)	L43R	probably damaging	Het
Or7a42	A	T	10: 78,791,188 (GRCm39)	I50F	possibly damaging	Het
Rprd2	T	A	3: 95,671,066 (GRCm39)	R1362*	probably null	Het
Sema3a	C	T	5: 13,523,433 (GRCm39)	T134I	probably damaging	Het
Slfn10-ps	C	T	11: 82,926,353 (GRCm39)		noncoding transcript	Het
Spag11a	A	T	8: 19,208,005 (GRCm39)	Q15H	probably damaging	Het
Tbc1d22a	G	A	15: 86,185,756 (GRCm39)	D282N	probably damaging	Het
Tmbim6	G	A	15: 99,300,003 (GRCm39)	V40M	possibly damaging	Het
Tmem259	A	G	10: 79,819,808 (GRCm39)	V22A	probably damaging	Het
Tnik	T	C	3: 28,679,377 (GRCm39)		probably null	Het
Unc13c	T	C	9: 73,424,610 (GRCm39)	D2002G	probably benign	Het

Other mutations in Sfta2

Allele	Source	Chr	Coord	Type	Predicted Effect
R1077:Sfta2	UTSW	17	35,961,019 (GRCm39)	intron	probably benign
R4194:Sfta2	UTSW	17	35,939,057 (GRCm39)	critical splice donor site	probably null
R4578:Sfta2	UTSW	17	35,960,775 (GRCm39)	intron	probably benign
R4841:Sfta2	UTSW	17	35,960,773 (GRCm39)	intron	probably benign
R4842:Sfta2	UTSW	17	35,960,773 (GRCm39)	intron	probably benign
R5989:Sfta2	UTSW	17	35,960,672 (GRCm39)	intron	probably benign
R7409:Sfta2	UTSW	17	35,925,410 (GRCm39)	missense	unknown
R8140:Sfta2	UTSW	17	35,912,666 (GRCm39)	missense	unknown

Posted On

2013-06-28