Mutagenetix > Incidental Mutation

Incidental Mutation 'R7351:Ift172'

570564

Institutional Source

Beutler Lab

Gene Symbol

Ift172

Ensembl Gene

ENSMUSG00000038564

Gene Name

intraflagellar transport 172

Synonyms

4930553F24Rik, wim, avc1

MMRRC Submission

045437-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7351 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31410623-31448458 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31433240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 550 (Y550H)

Ref Sequence

ENSEMBL: ENSMUSP00000049335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041565]

AlphaFold

Q6VH22

Predicted Effect

probably damaging
Transcript: ENSMUST00000041565
AA Change: Y550H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564
AA Change: Y550H

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

noncoding transcript
Transcript: ENSMUST00000201274

Predicted Effect

probably benign
Transcript: ENSMUST00000202585

SMART Domains

Protein: ENSMUSP00000144216
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
Blast:WD40	46	78	2e-11	BLAST

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	A	3: 124,206,159 (GRCm39)	G343V	probably damaging	Het
Adamts6	G	A	13: 104,526,620 (GRCm39)	S516N	possibly damaging	Het
Ahi1	A	G	10: 20,841,832 (GRCm39)	D301G	probably damaging	Het
Arhgef37	T	A	18: 61,631,286 (GRCm39)	L566F	possibly damaging	Het
AU040320	A	G	4: 126,710,237 (GRCm39)	N328D	probably damaging	Het
Bicc1	G	T	10: 70,783,730 (GRCm39)	T469K	probably benign	Het
Brk1	T	C	6: 113,592,742 (GRCm39)	S42P	probably benign	Het
Ccdc180	A	G	4: 45,903,887 (GRCm39)	E351G	possibly damaging	Het
Cenpo	A	T	12: 4,266,581 (GRCm39)	F176I	probably damaging	Het
Cfap97d1	A	G	11: 101,882,331 (GRCm39)	E163G	probably benign	Het
Clec12b	A	G	6: 129,356,874 (GRCm39)		probably null	Het
Ddx42	A	G	11: 106,138,508 (GRCm39)	N769S	probably benign	Het
Drc7	A	G	8: 95,785,135 (GRCm39)	D165G	probably benign	Het
Dync2h1	A	T	9: 7,167,145 (GRCm39)	I486N	probably damaging	Het
Gmip	A	G	8: 70,270,034 (GRCm39)	D679G	probably benign	Het
Gml2	T	C	15: 74,693,225 (GRCm39)	V76A	possibly damaging	Het
Gpr26	T	C	7: 131,576,094 (GRCm39)	C253R	probably damaging	Het
H2-Q4	A	G	17: 35,601,854 (GRCm39)	T239A	possibly damaging	Het
Hmcn1	T	A	1: 150,543,640 (GRCm39)	Y2845F	probably damaging	Het
Irgm2	G	A	11: 58,110,431 (GRCm39)	V41M	possibly damaging	Het
Lrp2	C	T	2: 69,278,486 (GRCm39)	G3956R	probably damaging	Het
Matn2	G	A	15: 34,345,482 (GRCm39)	R163H	probably damaging	Het
Mxd1	A	G	6: 86,628,448 (GRCm39)	S151P	probably damaging	Het
Or10ak16	T	C	4: 118,751,033 (GRCm39)	V251A	probably benign	Het
Or4a73	C	T	2: 89,420,857 (GRCm39)	G201S	probably benign	Het
Or5m10b	G	T	2: 85,694,415 (GRCm39)		probably benign	Het
Or8b3	C	T	9: 38,314,739 (GRCm39)	L190F	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plcg2	A	G	8: 118,317,049 (GRCm39)	E642G	possibly damaging	Het
Pramel6	T	A	2: 87,340,672 (GRCm39)	F335I	probably benign	Het
Psd	G	T	19: 46,310,869 (GRCm39)	S393R	probably benign	Het
Pwwp2a	A	G	11: 43,573,107 (GRCm39)	D63G	probably benign	Het
Rbm28	T	C	6: 29,158,879 (GRCm39)	T139A	probably benign	Het
Ripk2	T	G	4: 16,155,048 (GRCm39)	E157A	probably damaging	Het
Rnf145	G	A	11: 44,439,623 (GRCm39)	V140I	possibly damaging	Het
Rnf38	T	C	4: 44,149,102 (GRCm39)	N114D	probably benign	Het
Samd9l	G	A	6: 3,374,157 (GRCm39)	R1035C	probably benign	Het
Sec14l3	A	G	11: 4,024,785 (GRCm39)	T245A	probably benign	Het
Serpina10	A	T	12: 103,595,194 (GRCm39)	F8L	probably benign	Het
Slc16a8	T	A	15: 79,137,841 (GRCm39)	D56V	probably damaging	Het
Spag9	A	T	11: 93,983,802 (GRCm39)	E726D	probably benign	Het
Spg11	A	G	2: 121,900,412 (GRCm39)	F1547L	possibly damaging	Het
Sspo	T	C	6: 48,441,855 (GRCm39)	I1955T	possibly damaging	Het
Stx18	T	A	5: 38,196,755 (GRCm39)	V27E	probably benign	Het
Taf1c	A	G	8: 120,325,739 (GRCm39)	S708P	probably damaging	Het
Tas2r126	T	C	6: 42,412,240 (GRCm39)	F258L	probably benign	Het
Tdpoz2	C	T	3: 93,559,900 (GRCm39)	W24*	probably null	Het
Tmc8	T	C	11: 117,674,654 (GRCm39)	L123P	probably damaging	Het
Trmo	A	T	4: 46,387,716 (GRCm39)	Y35N	possibly damaging	Het
Ttn	C	T	2: 76,598,030 (GRCm39)	V19628I	possibly damaging	Het
Ttn	G	A	2: 76,770,274 (GRCm39)	A2685V	unknown	Het
Usp15	A	T	10: 122,968,904 (GRCm39)	M349K	probably damaging	Het
Vmn2r89	A	G	14: 51,693,739 (GRCm39)	N363S	probably benign	Het
Vwa3a	T	A	7: 120,375,559 (GRCm39)	I423N	probably damaging	Het
Zfp592	T	C	7: 80,691,439 (GRCm39)	V1206A	probably benign	Het
Zfp866	A	T	8: 70,218,547 (GRCm39)	Y358N	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
R6668:Ift172	UTSW	5	31,412,683 (GRCm39)	missense	probably benign	0.00
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
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'- GATACAGGCTGTGCTTGCAG -3'
(R):5'- AGGGCTGGAAACTCATTTTGC -3'

Sequencing Primer
(F):5'- GCTTGCAGTTTTCTCATAGAGATTAG -3'
(R):5'- AAACTCATTTTGCCACTGGGG -3'

Posted On

2019-09-13