Mutagenetix > Incidental Mutation

Incidental Mutation 'R1378:Ift22'

162938

Institutional Source

Beutler Lab

Gene Symbol

Ift22

Ensembl Gene

ENSMUSG00000007987

Gene Name

intraflagellar transport 22

Synonyms

Rabl5, 3110017O03Rik

MMRRC Submission

039442-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1378 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

136937004-136943363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 136941757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 133 (K133T)

Ref Sequence

ENSEMBL: ENSMUSP00000143017 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000199101] [ENSMUST00000200153] [ENSMUST00000200157]

AlphaFold

Q9DAI2

Predicted Effect

probably benign
Transcript: ENSMUST00000008131

SMART Domains

Protein: ENSMUSP00000008131
Gene: ENSMUSG00000007987

Domain	Start	End	E-Value	Type
Pfam:Arf	2	129	6.2e-10	PFAM
Pfam:SRPRB	2	182	9.9e-8	PFAM
Pfam:Ras	5	125	2.1e-13	PFAM
Pfam:Roc	5	125	3.2e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199101
AA Change: K133T

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000143017
Gene: ENSMUSG00000007987
AA Change: K133T

Domain	Start	End	E-Value	Type
SCOP:d1f6ba_	5	91	2e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200054

Predicted Effect

probably benign
Transcript: ENSMUST00000200153

SMART Domains

Protein: ENSMUSP00000142389
Gene: ENSMUSG00000007987

Domain	Start	End	E-Value	Type
Pfam:Arf	2	133	1.1e-8	PFAM
Pfam:SRPRB	2	133	1.5e-5	PFAM
Pfam:Miro	5	122	7.9e-7	PFAM
Pfam:Ras	5	125	3.1e-12	PFAM
low complexity region	148	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200157
AA Change: K163T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000143488
Gene: ENSMUSG00000007987
AA Change: K163T

Domain	Start	End	E-Value	Type
Pfam:Arf	2	129	6.4e-10	PFAM
Pfam:SRPRB	2	181	1e-7	PFAM
Pfam:Miro	5	122	5.1e-8	PFAM
Pfam:Ras	5	125	1.9e-13	PFAM

Meta Mutation Damage Score

0.0773

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,126,030 (GRCm39)	T342A	probably damaging	Het
Alg1	A	G	16: 5,061,580 (GRCm39)	N406D	probably damaging	Het
Atp13a4	A	T	16: 29,239,246 (GRCm39)	M825K	probably damaging	Het
Birc6	T	A	17: 74,967,450 (GRCm39)	I4117K	probably damaging	Het
Brinp2	A	T	1: 158,074,624 (GRCm39)	L499Q	possibly damaging	Het
Brwd1	A	T	16: 95,842,570 (GRCm39)	V789D	probably benign	Het
Ccdc153	C	G	9: 44,154,958 (GRCm39)	L94V	probably null	Het
Ccna1	A	G	3: 54,957,150 (GRCm39)	V237A	probably damaging	Het
Cct7	T	A	6: 85,444,545 (GRCm39)		probably null	Het
Cenpb	C	T	2: 131,020,230 (GRCm39)		probably benign	Het
Chrne	T	A	11: 70,505,956 (GRCm39)		probably null	Het
Clstn3	T	A	6: 124,415,378 (GRCm39)	D662V	probably damaging	Het
Clu	G	T	14: 66,212,350 (GRCm39)	C189F	probably damaging	Het
Cstdc5	A	G	16: 36,179,929 (GRCm39)	C63R	probably benign	Het
Cul7	C	T	17: 46,973,052 (GRCm39)	R1388C	probably damaging	Het
Dgka	T	C	10: 128,571,696 (GRCm39)		probably null	Het
Dop1b	A	G	16: 93,567,280 (GRCm39)	T1236A	probably benign	Het
Edn2	A	G	4: 120,019,095 (GRCm39)	E28G	probably benign	Het
Elp3	T	C	14: 65,830,380 (GRCm39)	I24V	probably benign	Het
Faap24	T	C	7: 35,092,326 (GRCm39)	E197G	probably benign	Het
Fam13a	T	A	6: 58,933,736 (GRCm39)	M285L	probably benign	Het
Gm9944	T	A	4: 144,179,773 (GRCm39)		probably benign	Het
Gsdmc3	T	C	15: 63,731,435 (GRCm39)		probably benign	Het
Gvin3	T	A	7: 106,201,373 (GRCm39)	I624F	probably damaging	Het
Il23r	T	A	6: 67,429,394 (GRCm39)	K316I	possibly damaging	Het
Klra17	T	A	6: 129,842,647 (GRCm39)	E217V	probably damaging	Het
Nell2	A	T	15: 95,130,402 (GRCm39)	V657E	probably damaging	Het
Nlrp4d	C	A	7: 10,098,111 (GRCm39)	K850N	probably benign	Het
Nsmce4a	C	T	7: 130,139,900 (GRCm39)	R276Q	probably benign	Het
Or10d4	T	C	9: 39,580,962 (GRCm39)	L203P	probably damaging	Het
Or4p8	T	A	2: 88,727,370 (GRCm39)	R190S	probably benign	Het
Or52s1b	T	C	7: 102,822,475 (GRCm39)	D123G	probably damaging	Het
Or52z14	A	T	7: 103,253,145 (GRCm39)	R95*	probably null	Het
Pclo	T	C	5: 14,732,327 (GRCm39)	S3610P	probably benign	Het
Pon3	T	G	6: 5,230,813 (GRCm39)	D238A	probably benign	Het
Ppp4r4	T	C	12: 103,547,751 (GRCm39)		probably benign	Het
Rad18	T	C	6: 112,658,297 (GRCm39)		probably benign	Het
Ralgapa1	T	C	12: 55,723,711 (GRCm39)	Y1652C	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Sel1l	T	C	12: 91,799,871 (GRCm39)		probably null	Het
Soat1	A	G	1: 156,294,352 (GRCm39)		probably benign	Het
Tex15	A	T	8: 34,065,244 (GRCm39)	N1558I	probably damaging	Het
Tmem132d	A	T	5: 128,346,011 (GRCm39)	F170L	probably benign	Het
Tro	G	T	X: 149,438,567 (GRCm39)	P30Q	probably damaging	Het
Tubg2	G	T	11: 101,047,699 (GRCm39)	E95*	probably null	Het
Unc45b	G	A	11: 82,827,678 (GRCm39)	S725N	probably benign	Het
Vmn2r7	A	G	3: 64,599,025 (GRCm39)	S511P	possibly damaging	Het
Vps35l	G	T	7: 118,393,795 (GRCm39)	E515*	probably null	Het
Vps35l	A	T	7: 118,393,796 (GRCm39)	E515V	probably damaging	Het
Zfp174	G	A	16: 3,667,353 (GRCm39)	E181K	probably benign	Het

Other mutations in Ift22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02153:Ift22	APN	5	136,940,550 (GRCm39)	missense	probably benign	0.44
IGL02755:Ift22	APN	5	136,940,640 (GRCm39)	missense	probably damaging	1.00
R0167:Ift22	UTSW	5	136,940,745 (GRCm39)	missense	probably benign	0.05
R0556:Ift22	UTSW	5	136,940,145 (GRCm39)	splice site	probably null
R2927:Ift22	UTSW	5	136,941,799 (GRCm39)	missense	probably damaging	1.00
R4058:Ift22	UTSW	5	136,940,717 (GRCm39)	missense	unknown
R4562:Ift22	UTSW	5	136,941,724 (GRCm39)	missense	probably benign	0.32
R4650:Ift22	UTSW	5	136,940,655 (GRCm39)	missense	probably benign	0.40
R4957:Ift22	UTSW	5	136,937,070 (GRCm39)	start gained	probably benign
R6057:Ift22	UTSW	5	136,939,987 (GRCm39)	missense	possibly damaging	0.95
R7910:Ift22	UTSW	5	136,940,638 (GRCm39)	missense	probably benign	0.00
R8905:Ift22	UTSW	5	136,941,745 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGCCTGGCTCATCCTTCACAAG -3'
(R):5'- TGGGGACAGCAGAGATCACATCAC -3'

Sequencing Primer
(F):5'- CAAGCTAGAAAGTGTTCCTTGTCC -3'
(R):5'- actctcaaccctcctccc -3'

Posted On

2014-03-17