Mutagenetix > Incidental Mutations

Incidental Mutation 'R4578:Sfta2'

343448

Institutional Source

Beutler Lab

Gene Symbol

Sfta2

Ensembl Gene

ENSMUSG00000090509

Gene Name

surfactant associated 2

Synonyms

EG433102

MMRRC Submission

041800-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35601549-35650571 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 35649883 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134221 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000171166
AA Change: R6C

SMART Domains

Protein: ENSMUSP00000132839
Gene: ENSMUSG00000090509
AA Change: R6C

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

probably benign
Transcript: ENSMUST00000174521

SMART Domains

Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174534

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,671	Y440*	probably null	Het
Aldh3b3	A	T	19: 3,964,832	T110S	probably benign	Het
Atp2b2	T	C	6: 113,760,711	T901A	probably damaging	Het
Auts2	C	T	5: 132,258,934	G70E	probably benign	Het
Bfar	A	T	16: 13,687,443	I106F	probably benign	Het
Btbd10	T	G	7: 113,322,752	I301L	possibly damaging	Het
Card14	G	A	11: 119,326,741	R400H	probably benign	Het
Ccdc80	A	G	16: 45,095,486	R202G	probably damaging	Het
Cmtm7	A	C	9: 114,763,283	I82S	probably benign	Het
Cngb3	T	A	4: 19,425,613	W474R	probably damaging	Het
Coq9	T	C	8: 94,853,606	V285A	probably benign	Het
Cp	A	G	3: 19,973,888	E486G	probably damaging	Het
Crybg3	C	T	16: 59,530,201	C892Y	probably damaging	Het
Cttn	A	T	7: 144,454,716	F176L	probably damaging	Het
Cytip	T	A	2: 58,160,012	N15I	possibly damaging	Het
Dgkb	A	G	12: 38,427,493	E634G	possibly damaging	Het
Duox1	A	G	2: 122,333,777	E906G	probably benign	Het
Efcab6	A	T	15: 83,933,168	S735T	probably benign	Het
Elfn1	T	C	5: 139,972,053	S271P	probably benign	Het
Ep300	T	A	15: 81,611,410		probably benign	Het
Ep300	T	C	15: 81,649,009	S1756P	unknown	Het
Ercc5	T	A	1: 44,148,148	V29E	probably benign	Het
Fam166a	T	C	2: 25,220,288	S71P	probably benign	Het
Frmd4a	C	A	2: 4,603,679	A786E	possibly damaging	Het
Ftcd	A	C	10: 76,589,258	E524D	probably benign	Het
Gfod2	T	C	8: 105,728,246	M1V	probably null	Het
Gm12790	T	C	4: 101,968,127	D30G	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gsta4	A	T	9: 78,206,020	R127S	probably benign	Het
Hcn2	G	A	10: 79,724,448		probably null	Het
Hectd1	A	G	12: 51,751,932	V2135A	probably damaging	Het
Hoxc6	A	G	15: 103,009,661	D19G	probably benign	Het
Hydin	A	T	8: 110,267,339	T2S	unknown	Het
Ifna14	A	T	4: 88,571,510	S97T	possibly damaging	Het
Igkv17-127	T	C	6: 67,861,199	L14P	unknown	Het
Il17rb	A	G	14: 30,002,399	V166A	probably damaging	Het
Iqca	T	A	1: 90,073,750	I520F	probably damaging	Het
Kcnv2	G	T	19: 27,323,594	V282L	probably benign	Het
Klk12	A	G	7: 43,773,243	D198G	probably damaging	Het
Kntc1	T	G	5: 123,765,955	L345R	probably damaging	Het
Lrfn5	A	G	12: 61,843,977	D684G	probably benign	Het
Mef2a	T	C	7: 67,240,439	N131S	probably benign	Het
Mis18bp1	T	C	12: 65,153,881	Y124C	probably damaging	Het
Myh2	T	A	11: 67,173,258	V48D	possibly damaging	Het
Nat10	A	G	2: 103,754,072	M120T	probably damaging	Het
Nf1	T	C	11: 79,445,759	S1065P	probably damaging	Het
Nfib	A	T	4: 82,296,811	S518R	probably damaging	Het
Pced1a	A	C	2: 130,422,676	L78R	probably damaging	Het
Peli3	T	C	19: 4,934,458	D192G	probably benign	Het
Plb1	C	T	5: 32,247,557	Q20*	probably null	Het
Pomgnt2	G	A	9: 121,983,065	R217C	probably damaging	Het
Ptprd	C	T	4: 76,243,786	V78I	possibly damaging	Het
Rngtt	A	G	4: 33,339,050	E285G	probably benign	Het
Sclt1	G	A	3: 41,671,465	Q356*	probably null	Het
Scn2b	T	C	9: 45,126,162	F169S	possibly damaging	Het
Srpr	T	C	9: 35,214,608	I394T	possibly damaging	Het
Sspo	A	C	6: 48,463,373	D1541A	possibly damaging	Het
Strc	G	A	2: 121,378,003	L296F	possibly damaging	Het
Svop	C	T	5: 114,065,682	V13M	probably damaging	Het
Taf6l	C	A	19: 8,783,971	R10L	possibly damaging	Het
Tbx3	G	T	5: 119,682,776	R617L	probably damaging	Het
Tnrc6a	A	G	7: 123,184,221	R1471G	possibly damaging	Het
Togaram1	T	C	12: 65,020,326	L1714P	probably damaging	Het
Traf3ip2	A	G	10: 39,634,654	N308D	probably damaging	Het
Trim30b	T	C	7: 104,357,331	Y106C	possibly damaging	Het
Vcp	A	T	4: 42,984,565	M442K	probably benign	Het
Vmn2r16	A	T	5: 109,363,799	Y624F	possibly damaging	Het
Vmn2r52	A	T	7: 10,170,690	H407Q	probably damaging	Het
Vps13a	A	T	19: 16,682,110	D1684E	probably damaging	Het
Wdr49	T	C	3: 75,335,243	M380V	probably benign	Het

Other mutations in Sfta2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Sfta2	APN	17	35650444	missense	possibly damaging	0.93
R1077:Sfta2	UTSW	17	35650127	intron	probably benign
R4194:Sfta2	UTSW	17	35628165	critical splice donor site	probably null
R4841:Sfta2	UTSW	17	35649881	intron	probably benign
R4842:Sfta2	UTSW	17	35649881	intron	probably benign
R5989:Sfta2	UTSW	17	35649780	intron	probably benign
R7409:Sfta2	UTSW	17	35614518	missense	unknown
R8140:Sfta2	UTSW	17	35601774	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTAGTGAGTGGCCCTCTCC -3'
(R):5'- CTAAAGTCAGGGCCATGTTACC -3'

Sequencing Primer
(F):5'- CTCTCCAGGGTCATAGGAAGTG -3'
(R):5'- GGGCACACATGTCCCATATC -3'

Posted On

2015-09-24