Mutagenetix > Incidental Mutation

Incidental Mutation 'R6668:Ift172'

527060

Institutional Source

Beutler Lab

Gene Symbol

Ift172

Ensembl Gene

ENSMUSG00000038564

Gene Name

intraflagellar transport 172

Synonyms

4930553F24Rik, wim, avc1

MMRRC Submission

044788-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6668 (G1)

Quality Score

220.009

Status

Validated

Chromosome

Chromosomal Location

31410623-31448458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31412683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1524 (N1524S)

Ref Sequence

ENSEMBL: ENSMUSP00000049335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000041565] [ENSMUST00000054829] [ENSMUST00000201937] [ENSMUST00000201625] [ENSMUST00000202576]

AlphaFold

Q6VH22

Predicted Effect

probably benign
Transcript: ENSMUST00000031034

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	324	5.8e-26	PFAM
Pfam:Pkinase	80	327	1e-26	PFAM
low complexity region	412	436	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041565
AA Change: N1524S

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: N1524S

Domain	Start	End	E-Value	Type
WD40	2	44	6e-3	SMART
WD40	55	94	2.22e0	SMART
WD40	102	139	1.23e2	SMART
WD40	141	180	4.6e0	SMART
WD40	186	223	3.3e1	SMART
WD40	225	267	4.42e1	SMART
WD40	279	314	1.03e1	SMART
Blast:WD40	516	550	5e-13	BLAST
low complexity region	573	588	N/A	INTRINSIC
internal_repeat_1	625	1026	1.7e-10	PROSPERO
Blast:TPR	1029	1062	2e-13	BLAST
low complexity region	1077	1091	N/A	INTRINSIC
internal_repeat_1	1101	1498	1.7e-10	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000054829

SMART Domains

Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	211	8.6e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201393

Predicted Effect

probably benign
Transcript: ENSMUST00000201937

SMART Domains

Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202801

Predicted Effect

probably benign
Transcript: ENSMUST00000201625

SMART Domains

Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000202576

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase	79	335	1e-24	PFAM
Pfam:Pkinase_Tyr	81	332	6.5e-25	PFAM
low complexity region	420	444	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202007

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (42/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	T	11: 116,486,868 (GRCm39)		probably benign	Het
Adam26b	A	T	8: 43,973,727 (GRCm39)	V425D	possibly damaging	Het
Ahctf1	A	G	1: 179,579,972 (GRCm39)	S2077P	probably benign	Het
Amacr	A	G	15: 10,983,468 (GRCm39)	T93A	probably benign	Het
Arsb	T	A	13: 93,930,728 (GRCm39)		probably null	Het
Bcas3	G	A	11: 85,692,677 (GRCm39)	R354Q	probably damaging	Het
Chia1	C	T	3: 106,038,264 (GRCm39)	L387F	probably damaging	Het
Cyp24a1	A	T	2: 170,327,805 (GRCm39)		probably null	Het
Dennd4a	G	A	9: 64,794,247 (GRCm39)	G689S	probably damaging	Het
Elovl4	G	A	9: 83,688,039 (GRCm39)	A18V	probably benign	Het
Fam135a	A	T	1: 24,067,929 (GRCm39)	V80E	probably damaging	Het
Fmo2	T	A	1: 162,704,617 (GRCm39)	T430S	probably benign	Het
Fpgs	T	C	2: 32,577,618 (GRCm39)	I213V	probably benign	Het
Gm10134	A	T	2: 28,396,263 (GRCm39)	R53*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Kif1b	G	A	4: 149,297,864 (GRCm39)	S1104F	probably benign	Het
Map3k21	T	C	8: 126,652,852 (GRCm39)	V326A	possibly damaging	Het
Mlst8	A	G	17: 24,696,453 (GRCm39)		probably null	Het
Muc16	A	T	9: 18,551,681 (GRCm39)	S4871T	probably benign	Het
Myo1d	A	G	11: 80,474,701 (GRCm39)		probably benign	Het
Ndufa3	A	G	7: 3,622,465 (GRCm39)	Y41C	probably damaging	Het
Nfkbid	T	A	7: 30,123,866 (GRCm39)	L142Q	probably benign	Het
Or8b38	T	A	9: 37,973,066 (GRCm39)	M150K	possibly damaging	Het
Peg10	T	A	6: 4,754,502 (GRCm39)	D94E	probably benign	Het
Phactr3	A	T	2: 177,974,657 (GRCm39)	I492F	probably damaging	Het
Plxna2	T	C	1: 194,492,396 (GRCm39)	V1751A	possibly damaging	Het
Prss16	T	C	13: 22,190,918 (GRCm39)	E238G	probably null	Het
Rad51ap2	T	C	12: 11,507,647 (GRCm39)	V523A	probably benign	Het
Rbm33	T	A	5: 28,547,498 (GRCm39)	S223T	probably benign	Het
Ryk	T	A	9: 102,746,475 (GRCm39)	F137I	possibly damaging	Het
Sars2	G	A	7: 28,446,429 (GRCm39)	E194K	probably benign	Het
Spata2l	T	C	8: 123,960,167 (GRCm39)	D374G	probably damaging	Het
Tenm2	A	G	11: 35,937,592 (GRCm39)		probably null	Het
Ubr4	A	G	4: 139,192,652 (GRCm39)	K1097E	probably damaging	Het
Ulk4	A	T	9: 121,017,408 (GRCm39)	V690E	probably damaging	Het
Usp34	A	G	11: 23,410,659 (GRCm39)	N2703S	probably damaging	Het
Zfp273	C	G	13: 67,973,243 (GRCm39)	L124V	probably damaging	Het
Zfp608	A	G	18: 55,031,091 (GRCm39)	S950P	probably damaging	Het
Zfp994	A	T	17: 22,420,081 (GRCm39)	H289Q	probably damaging	Het

Other mutations in Ift172

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00476:Ift172	APN	5	31,433,240 (GRCm39)	missense	probably damaging	1.00
IGL01399:Ift172	APN	5	31,423,592 (GRCm39)	missense	probably benign
IGL01405:Ift172	APN	5	31,419,196 (GRCm39)	nonsense	probably null
IGL01562:Ift172	APN	5	31,424,591 (GRCm39)	missense	probably damaging	0.97
IGL01758:Ift172	APN	5	31,438,058 (GRCm39)	missense	probably benign
IGL01792:Ift172	APN	5	31,434,215 (GRCm39)	missense	probably damaging	1.00
IGL01830:Ift172	APN	5	31,442,636 (GRCm39)	missense	probably damaging	1.00
IGL01839:Ift172	APN	5	31,423,694 (GRCm39)	missense	probably damaging	1.00
IGL02007:Ift172	APN	5	31,443,948 (GRCm39)	missense	probably benign	0.17
IGL02172:Ift172	APN	5	31,438,681 (GRCm39)	splice site	probably benign
IGL02190:Ift172	APN	5	31,411,802 (GRCm39)	missense	possibly damaging	0.51
IGL02334:Ift172	APN	5	31,440,402 (GRCm39)	missense	probably benign	0.00
IGL02486:Ift172	APN	5	31,414,927 (GRCm39)	missense	probably damaging	1.00
IGL02517:Ift172	APN	5	31,410,992 (GRCm39)	splice site	probably null
IGL02571:Ift172	APN	5	31,415,235 (GRCm39)	missense	probably damaging	1.00
IGL02626:Ift172	APN	5	31,421,840 (GRCm39)	missense	probably benign
IGL03183:Ift172	APN	5	31,429,348 (GRCm39)	missense	probably benign	0.06
IGL03277:Ift172	APN	5	31,424,642 (GRCm39)	missense	possibly damaging	0.92
IGL03349:Ift172	APN	5	31,441,474 (GRCm39)	missense	probably benign	0.05
ostinato	UTSW	5	31,434,284 (GRCm39)	missense	probably benign	0.10
pushback	UTSW	5	31,444,289 (GRCm39)	missense	probably damaging	1.00
P0042:Ift172	UTSW	5	31,418,799 (GRCm39)	missense	probably benign	0.35
PIT4802001:Ift172	UTSW	5	31,442,610 (GRCm39)	missense	probably benign	0.03
R0153:Ift172	UTSW	5	31,417,968 (GRCm39)	missense	probably benign
R0328:Ift172	UTSW	5	31,421,195 (GRCm39)	nonsense	probably null
R0357:Ift172	UTSW	5	31,415,244 (GRCm39)	missense	possibly damaging	0.51
R0369:Ift172	UTSW	5	31,410,985 (GRCm39)	missense	probably damaging	1.00
R0391:Ift172	UTSW	5	31,444,011 (GRCm39)	missense	probably damaging	1.00
R0512:Ift172	UTSW	5	31,442,821 (GRCm39)	missense	possibly damaging	0.92
R0546:Ift172	UTSW	5	31,414,945 (GRCm39)	missense	probably benign	0.14
R0553:Ift172	UTSW	5	31,433,186 (GRCm39)	splice site	probably benign
R0606:Ift172	UTSW	5	31,411,657 (GRCm39)	missense	probably damaging	0.99
R0834:Ift172	UTSW	5	31,414,715 (GRCm39)	missense	probably benign
R0973:Ift172	UTSW	5	31,415,262 (GRCm39)	unclassified	probably benign
R0973:Ift172	UTSW	5	31,422,699 (GRCm39)	missense	probably benign
R1189:Ift172	UTSW	5	31,443,174 (GRCm39)	critical splice acceptor site	probably null
R1205:Ift172	UTSW	5	31,443,136 (GRCm39)	missense	probably benign
R1289:Ift172	UTSW	5	31,438,320 (GRCm39)	missense	probably damaging	0.98
R1342:Ift172	UTSW	5	31,419,210 (GRCm39)	missense	probably benign
R1395:Ift172	UTSW	5	31,442,582 (GRCm39)	unclassified	probably benign
R1417:Ift172	UTSW	5	31,413,993 (GRCm39)	missense	probably damaging	1.00
R2020:Ift172	UTSW	5	31,424,585 (GRCm39)	nonsense	probably null
R2111:Ift172	UTSW	5	31,443,423 (GRCm39)	missense	probably benign	0.04
R2175:Ift172	UTSW	5	31,424,029 (GRCm39)	missense	probably damaging	1.00
R2509:Ift172	UTSW	5	31,420,312 (GRCm39)	missense	probably benign
R2870:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2870:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2871:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2871:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2872:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R2872:Ift172	UTSW	5	31,415,205 (GRCm39)	missense	probably benign	0.00
R3705:Ift172	UTSW	5	31,418,781 (GRCm39)	critical splice donor site	probably null
R3793:Ift172	UTSW	5	31,414,925 (GRCm39)	missense	possibly damaging	0.61
R4385:Ift172	UTSW	5	31,444,311 (GRCm39)	missense	probably damaging	1.00
R4477:Ift172	UTSW	5	31,422,781 (GRCm39)	missense	probably benign	0.38
R4590:Ift172	UTSW	5	31,411,299 (GRCm39)	missense	probably damaging	1.00
R4663:Ift172	UTSW	5	31,441,559 (GRCm39)	missense	probably benign	0.01
R4665:Ift172	UTSW	5	31,442,598 (GRCm39)	missense	possibly damaging	0.82
R4977:Ift172	UTSW	5	31,429,460 (GRCm39)	missense	possibly damaging	0.79
R5109:Ift172	UTSW	5	31,423,330 (GRCm39)	missense	probably benign	0.06
R5182:Ift172	UTSW	5	31,424,958 (GRCm39)	missense	possibly damaging	0.51
R5343:Ift172	UTSW	5	31,421,156 (GRCm39)	missense	probably benign	0.05
R5465:Ift172	UTSW	5	31,418,862 (GRCm39)	splice site	probably null
R5622:Ift172	UTSW	5	31,440,426 (GRCm39)	missense	probably damaging	1.00
R5718:Ift172	UTSW	5	31,412,621 (GRCm39)	missense	possibly damaging	0.94
R5793:Ift172	UTSW	5	31,434,292 (GRCm39)	missense	possibly damaging	0.96
R5870:Ift172	UTSW	5	31,434,284 (GRCm39)	missense	probably benign	0.10
R5919:Ift172	UTSW	5	31,418,006 (GRCm39)	missense	possibly damaging	0.63
R5968:Ift172	UTSW	5	31,418,828 (GRCm39)	missense	probably damaging	1.00
R6112:Ift172	UTSW	5	31,414,241 (GRCm39)	missense	probably benign
R6339:Ift172	UTSW	5	31,444,289 (GRCm39)	missense	probably damaging	1.00
R6339:Ift172	UTSW	5	31,413,927 (GRCm39)	missense	probably benign	0.00
R6355:Ift172	UTSW	5	31,441,501 (GRCm39)	missense	probably benign	0.33
R6565:Ift172	UTSW	5	31,433,227 (GRCm39)	missense	possibly damaging	0.68
R6755:Ift172	UTSW	5	31,418,342 (GRCm39)	nonsense	probably null
R6818:Ift172	UTSW	5	31,423,304 (GRCm39)	missense	probably benign	0.01
R6939:Ift172	UTSW	5	31,414,930 (GRCm39)	missense	probably damaging	1.00
R6980:Ift172	UTSW	5	31,414,730 (GRCm39)	missense	probably benign
R7047:Ift172	UTSW	5	31,433,238 (GRCm39)	nonsense	probably null
R7156:Ift172	UTSW	5	31,429,419 (GRCm39)	missense	probably damaging	1.00
R7180:Ift172	UTSW	5	31,411,606 (GRCm39)	missense	probably damaging	1.00
R7288:Ift172	UTSW	5	31,442,630 (GRCm39)	missense	probably damaging	1.00
R7351:Ift172	UTSW	5	31,433,240 (GRCm39)	missense	probably damaging	1.00
R7706:Ift172	UTSW	5	31,423,723 (GRCm39)	nonsense	probably null
R7890:Ift172	UTSW	5	31,440,425 (GRCm39)	nonsense	probably null
R7980:Ift172	UTSW	5	31,417,988 (GRCm39)	missense	probably benign
R8263:Ift172	UTSW	5	31,422,681 (GRCm39)	missense	possibly damaging	0.48
R8559:Ift172	UTSW	5	31,413,921 (GRCm39)	missense	probably damaging	0.98
R8717:Ift172	UTSW	5	31,412,985 (GRCm39)	missense	probably benign	0.00
R8774:Ift172	UTSW	5	31,415,207 (GRCm39)	missense	probably benign	0.45
R8774-TAIL:Ift172	UTSW	5	31,415,207 (GRCm39)	missense	probably benign	0.45
R9037:Ift172	UTSW	5	31,420,400 (GRCm39)	missense	possibly damaging	0.56
R9038:Ift172	UTSW	5	31,441,399 (GRCm39)	missense	possibly damaging	0.53
R9133:Ift172	UTSW	5	31,442,867 (GRCm39)	missense	probably benign	0.00
R9607:Ift172	UTSW	5	31,410,913 (GRCm39)	missense
X0022:Ift172	UTSW	5	31,442,664 (GRCm39)	missense	probably damaging	0.97
Z1176:Ift172	UTSW	5	31,434,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGATTAGACCGAGAAGCAC -3'
(R):5'- TCTCAGTCCAAATGGGCAGC -3'

Sequencing Primer
(F):5'- CGTAGATCCAGAACTGACACTTGTG -3'
(R):5'- GTCCAAATGGGCAGCAGTAACC -3'

Posted On

2018-07-23