Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02153:Ift22'

282127

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ift22

Ensembl Gene

ENSMUSG00000007987

Gene Name

intraflagellar transport 22

Synonyms

Rabl5, 3110017O03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02153

Quality Score

Status

Chromosome

Chromosomal Location

136937004-136943363 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136940550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 72 (S72P)

Ref Sequence

ENSEMBL: ENSMUSP00000142389 (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: S42P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000143017
Gene: ENSMUSG00000007987
AA Change: S42P

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
AA Change: S72P

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142389
Gene: ENSMUSG00000007987
AA Change: S72P

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: S72P

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000143488
Gene: ENSMUSG00000007987
AA Change: S72P

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,283,161 (GRCm39)	I275T	probably benign	Het
Chd9	A	T	8: 91,683,122 (GRCm39)	K521*	probably null	Het
Csn3	A	T	5: 88,077,956 (GRCm39)	N154I	possibly damaging	Het
Dock2	A	G	11: 34,180,670 (GRCm39)	S1716P	probably benign	Het
Dock7	A	T	4: 98,846,304 (GRCm39)	S18T	probably benign	Het
Esrra	G	A	19: 6,891,190 (GRCm39)	T190I	probably benign	Het
F13b	T	C	1: 139,444,115 (GRCm39)	I483T	probably damaging	Het
Foxb1	T	A	9: 69,666,985 (GRCm39)	M182L	probably benign	Het
Fsip2	T	C	2: 82,809,065 (GRCm39)	F1795L	probably benign	Het
Gkn2	G	A	6: 87,350,390 (GRCm39)		probably null	Het
Gm8439	G	A	4: 120,466,787 (GRCm39)	A93T	unknown	Het
Kcnmb2	A	G	3: 32,232,993 (GRCm39)	K24E	probably damaging	Het
Kcnq3	C	A	15: 65,897,040 (GRCm39)	V287L	probably damaging	Het
Lrriq1	T	A	10: 103,006,340 (GRCm39)	M1262L	probably benign	Het
Mb21d2	A	G	16: 28,748,240 (GRCm39)	I59T	probably benign	Het
Mogat2	A	T	7: 98,872,761 (GRCm39)	M141K	possibly damaging	Het
Mtdh	C	T	15: 34,131,396 (GRCm39)	L409F	possibly damaging	Het
Muc5ac	C	T	7: 141,372,537 (GRCm39)	Q2724*	probably null	Het
Myo15a	T	G	11: 60,389,223 (GRCm39)	L2040R	probably damaging	Het
Nodal	C	T	10: 61,260,324 (GRCm39)	T325I	probably damaging	Het
Pappa	A	T	4: 65,215,674 (GRCm39)	T1194S	probably damaging	Het
Pcdhb13	A	C	18: 37,576,738 (GRCm39)	D372A	probably damaging	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Pigr	T	A	1: 130,776,793 (GRCm39)		probably null	Het
Plcb1	T	C	2: 135,229,773 (GRCm39)	I1131T	probably benign	Het
Plch1	T	A	3: 63,688,772 (GRCm39)	D132V	probably damaging	Het
Plxnb2	C	A	15: 89,050,016 (GRCm39)	E502*	probably null	Het
Prox2	T	C	12: 85,134,703 (GRCm39)	N526S	probably damaging	Het
Rdm1	T	A	11: 101,519,280 (GRCm39)		probably null	Het
Rxfp1	C	T	3: 79,567,427 (GRCm39)	E308K	probably benign	Het
Sgca	T	C	11: 94,854,110 (GRCm39)	T120A	probably damaging	Het
Sh3tc1	G	A	5: 35,860,696 (GRCm39)	R1054W	probably damaging	Het
Smarcal1	C	T	1: 72,672,214 (GRCm39)		probably benign	Het
Spata45	T	A	1: 190,771,958 (GRCm39)	M60K	probably benign	Het
St8sia6	T	C	2: 13,661,716 (GRCm39)	M372V	probably damaging	Het
Tas2r126	T	G	6: 42,411,598 (GRCm39)	S44A	probably benign	Het
Tcea3	T	A	4: 136,000,945 (GRCm39)		probably benign	Het
Thoc2l	A	G	5: 104,668,949 (GRCm39)	E1157G	probably benign	Het
Tln1	T	C	4: 43,546,857 (GRCm39)	I840V	possibly damaging	Het
Ttn	T	C	2: 76,728,685 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,187,471 (GRCm39)	Y3846*	probably null	Het
Usp47	G	A	7: 111,703,256 (GRCm39)	D1171N	probably benign	Het
Vmn2r114	G	A	17: 23,510,782 (GRCm39)	T566I	probably benign	Het
Wdr35	G	A	12: 9,058,535 (GRCm39)	R575Q	probably null	Het
Xkr5	A	T	8: 18,983,683 (GRCm39)	C454S	probably benign	Het

Other mutations in Ift22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1378:Ift22	UTSW	5	136,941,757 (GRCm39)	missense	probably benign	0.09
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

Posted On

2015-04-16