Mutagenetix > Incidental Mutation

Incidental Mutation 'R2126:Cfap91'

229945

Institutional Source

Beutler Lab

Gene Symbol

Cfap91

Ensembl Gene

ENSMUSG00000022805

Gene Name

cilia and flagella associated protein 91

Synonyms

4932425I24Rik, Spata26, Maats1

MMRRC Submission

040129-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2126 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38118116-38162222 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38162124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 6 (T6A)

Ref Sequence

ENSEMBL: ENSMUSP00000110388 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023501] [ENSMUST00000114740]

AlphaFold

Q8BRC6

Predicted Effect

probably benign
Transcript: ENSMUST00000023501
AA Change: T6A

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: T6A

Domain	Start	End	E-Value	Type
Pfam:PaaSYMP	190	342	1.4e-65	PFAM
low complexity region	413	428	N/A	INTRINSIC
low complexity region	513	526	N/A	INTRINSIC
low complexity region	599	613	N/A	INTRINSIC
coiled coil region	650	682	N/A	INTRINSIC
coiled coil region	737	763	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114740
AA Change: T6A

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: T6A

Domain	Start	End	E-Value	Type
Pfam:PaaSYMP	189	342	1.3e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141896

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Acat3	C	T	17: 13,146,294 (GRCm39)	A230T	probably benign	Het
Acsl1	C	A	8: 46,986,663 (GRCm39)	P650Q	probably benign	Het
Adgrl3	T	A	5: 81,660,383 (GRCm39)	I316N	probably damaging	Het
Agrp	G	T	8: 106,293,467 (GRCm39)	T106K	probably damaging	Het
AI429214	T	A	8: 37,461,362 (GRCm39)	V170E	probably benign	Het
Akap13	G	A	7: 75,375,052 (GRCm39)	G1895S	possibly damaging	Het
Alpk2	G	A	18: 65,483,439 (GRCm39)	Q190*	probably null	Het
Aox3	C	A	1: 58,197,375 (GRCm39)	Q574K	probably benign	Het
Apeh	A	G	9: 107,962,866 (GRCm39)	Y702H	probably damaging	Het
Aqp11	A	G	7: 97,386,692 (GRCm39)	I151T	probably benign	Het
Arhgap28	A	G	17: 68,176,010 (GRCm39)	V363A	possibly damaging	Het
Arhgef18	A	G	8: 3,501,939 (GRCm39)	N699S	probably damaging	Het
Asnsd1	A	G	1: 53,386,476 (GRCm39)	S384P	probably benign	Het
Atl1	G	T	12: 69,978,431 (GRCm39)		probably null	Het
Atp13a2	A	T	4: 140,722,702 (GRCm39)	D203V	possibly damaging	Het
Axdnd1	A	T	1: 156,160,784 (GRCm39)	N164K	probably benign	Het
Bnipl	T	A	3: 95,152,994 (GRCm39)	I162F	probably damaging	Het
Cacna1d	A	T	14: 29,845,120 (GRCm39)	L655I	probably damaging	Het
Canx	T	C	11: 50,195,185 (GRCm39)	I294M	probably damaging	Het
Casz1	T	C	4: 149,030,521 (GRCm39)	F1180S	probably damaging	Het
Cav3	T	C	6: 112,449,344 (GRCm39)	Y121H	probably benign	Het
Cd4	A	C	6: 124,847,499 (GRCm39)	S222A	probably benign	Het
Cds1	T	C	5: 101,960,416 (GRCm39)	I289T	probably benign	Het
Cep112	T	C	11: 108,399,084 (GRCm39)	F328L	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Cfap44	A	T	16: 44,230,838 (GRCm39)	D273V	probably benign	Het
Clec7a	C	T	6: 129,447,918 (GRCm39)	G49D	probably benign	Het
Col22a1	G	A	15: 71,729,102 (GRCm39)	Q599*	probably null	Het
Col6a5	T	A	9: 105,822,799 (GRCm39)	H186L	unknown	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnajc10	G	A	2: 80,181,078 (GRCm39)		probably null	Het
Edem3	A	T	1: 151,670,482 (GRCm39)	H337L	possibly damaging	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Ercc6l2	G	A	13: 63,996,585 (GRCm39)	V365I	probably damaging	Het
Fan1	T	C	7: 63,996,636 (GRCm39)	E978G	probably damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Gaa	G	A	11: 119,161,108 (GRCm39)	W50*	probably null	Het
Gm10032	T	C	14: 67,030,227 (GRCm39)		noncoding transcript	Het
Gm10985	CTCTAT	CT	3: 53,752,670 (GRCm39)		probably null	Het
Gprc5b	G	T	7: 118,583,398 (GRCm39)	P157Q	probably damaging	Het
Gsdmc3	G	A	15: 63,730,383 (GRCm39)	Q394*	probably null	Het
Gucd1	A	G	10: 75,347,922 (GRCm39)	S38P	probably damaging	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hmx3	G	C	7: 131,146,278 (GRCm39)	V329L	possibly damaging	Het
Hnrnpul2	A	T	19: 8,801,802 (GRCm39)	R337*	probably null	Het
Idua	T	A	5: 108,829,304 (GRCm39)	H368Q	possibly damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Klhl30	T	A	1: 91,286,499 (GRCm39)		probably null	Het
Lasp1	T	A	11: 97,726,960 (GRCm39)	D227E	probably benign	Het
Lhx6	A	G	2: 35,981,336 (GRCm39)	I85T	possibly damaging	Het
Limch1	A	G	5: 67,187,103 (GRCm39)	D840G	probably damaging	Het
Loxl4	C	G	19: 42,592,402 (GRCm39)	E385D	probably damaging	Het
Lrrtm4	A	T	6: 79,998,722 (GRCm39)	I44F	probably damaging	Het
Ltbp2	T	C	12: 84,832,483 (GRCm39)		probably null	Het
Lyg1	T	C	1: 37,989,755 (GRCm39)	Y44C	probably damaging	Het
Map1a	A	G	2: 121,129,122 (GRCm39)	I129V	probably damaging	Het
Med27	C	T	2: 29,414,442 (GRCm39)	Q150*	probably null	Het
Ms4a5	A	T	19: 11,256,732 (GRCm39)	I55N	probably damaging	Het
Muc5ac	T	C	7: 141,364,479 (GRCm39)	S2597P	possibly damaging	Het
Mxd1	A	C	6: 86,628,422 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Niban1	A	C	1: 151,571,886 (GRCm39)	E277A	probably damaging	Het
Niban1	A	G	1: 151,584,884 (GRCm39)	I494V	possibly damaging	Het
Nrn1	A	C	13: 36,914,180 (GRCm39)	V34G	probably damaging	Het
Or4k52	A	G	2: 111,610,841 (GRCm39)	M59V	probably damaging	Het
Or4n5	A	G	14: 50,132,524 (GRCm39)	I245T	probably benign	Het
Or52b1	C	T	7: 104,978,459 (GRCm39)	W313*	probably null	Het
Or56a3	A	G	7: 104,735,822 (GRCm39)	T300A	probably damaging	Het
Or8b39	G	T	9: 37,996,572 (GRCm39)	V147L	probably benign	Het
Or8h9	T	C	2: 86,789,442 (GRCm39)	Y120C	possibly damaging	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pdia4	A	T	6: 47,773,771 (GRCm39)	V526E	probably damaging	Het
Pdia6	T	C	12: 17,328,546 (GRCm39)	V167A	probably damaging	Het
Pgk2	A	G	17: 40,518,400 (GRCm39)	F343L	probably damaging	Het
Piwil1	T	C	5: 128,831,160 (GRCm39)	V827A	probably damaging	Het
Plag1	A	T	4: 3,904,169 (GRCm39)	Y341N	possibly damaging	Het
Plch2	T	C	4: 155,083,456 (GRCm39)	E393G	probably damaging	Het
Ptprg	T	A	14: 12,154,355 (GRCm38)	M692K	probably benign	Het
Rassf8	G	A	6: 145,760,908 (GRCm39)	R78H	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,341,027 (GRCm39)	Q3556R	probably damaging	Het
Rpa2	T	C	4: 132,496,099 (GRCm39)		probably null	Het
Rpe	T	G	1: 66,755,139 (GRCm39)	F174V	possibly damaging	Het
Sbf2	T	C	7: 110,159,502 (GRCm39)	D36G	probably damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Slc24a4	T	C	12: 102,189,018 (GRCm39)	V151A	probably damaging	Het
Slc30a8	A	T	15: 52,159,330 (GRCm39)	M17L	probably benign	Het
Slit3	T	C	11: 35,579,506 (GRCm39)	Y1228H	probably damaging	Het
Smad4	G	A	18: 73,795,815 (GRCm39)	T193M	probably benign	Het
Smtn	T	A	11: 3,480,045 (GRCm39)	H392L	probably benign	Het
St8sia3	A	G	18: 64,402,745 (GRCm39)	D128G	probably damaging	Het
Sucla2	A	T	14: 73,830,108 (GRCm39)	M382L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tex44	T	C	1: 86,354,811 (GRCm39)	L240P	probably benign	Het
Tns4	A	T	11: 98,970,904 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,039,758 (GRCm39)	V731E	possibly damaging	Het
Ttf1	A	G	2: 28,961,357 (GRCm39)	K582E	probably damaging	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttll6	A	G	11: 96,038,358 (GRCm39)	E402G	probably damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Ugt8a	T	C	3: 125,669,195 (GRCm39)	D303G	probably damaging	Het
Ulk1	G	T	5: 110,940,302 (GRCm39)	A373D	probably benign	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vmn2r19	T	A	6: 123,293,033 (GRCm39)	D358E	possibly damaging	Het
Vmn2r88	T	C	14: 51,651,264 (GRCm39)	S201P	probably benign	Het
Zfp36l2	A	G	17: 84,494,403 (GRCm39)	F78S	probably damaging	Het
Zfp454	A	C	11: 50,764,822 (GRCm39)	S203R	probably benign	Het
Zfp616	C	A	11: 73,976,229 (GRCm39)	Q833K	probably benign	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	probably benign	Het
Zswim3	T	A	2: 164,661,913 (GRCm39)	I131N	probably benign	Het

Other mutations in Cfap91

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Cfap91	APN	16	38,156,704 (GRCm39)	critical splice donor site	probably null
IGL02243:Cfap91	APN	16	38,162,142 (GRCm39)	utr 5 prime	probably benign
IGL02377:Cfap91	APN	16	38,153,181 (GRCm39)	splice site	probably benign
IGL02604:Cfap91	APN	16	38,141,921 (GRCm39)	unclassified	probably benign
IGL02623:Cfap91	APN	16	38,154,140 (GRCm39)	missense	possibly damaging	0.51
IGL02985:Cfap91	APN	16	38,118,634 (GRCm39)	missense	probably damaging	0.98
IGL03389:Cfap91	APN	16	38,144,498 (GRCm39)	critical splice donor site	probably null
PIT4280001:Cfap91	UTSW	16	38,153,135 (GRCm39)	missense	probably benign	0.23
PIT4449001:Cfap91	UTSW	16	38,148,720 (GRCm39)	missense	probably damaging	1.00
R0076:Cfap91	UTSW	16	38,123,046 (GRCm39)	nonsense	probably null
R0076:Cfap91	UTSW	16	38,123,046 (GRCm39)	nonsense	probably null
R0360:Cfap91	UTSW	16	38,118,659 (GRCm39)	critical splice acceptor site	probably null
R0501:Cfap91	UTSW	16	38,155,997 (GRCm39)	missense	probably damaging	1.00
R0523:Cfap91	UTSW	16	38,148,736 (GRCm39)	missense	probably damaging	1.00
R0743:Cfap91	UTSW	16	38,155,996 (GRCm39)	missense	probably damaging	0.99
R0900:Cfap91	UTSW	16	38,156,764 (GRCm39)	missense	possibly damaging	0.70
R1218:Cfap91	UTSW	16	38,118,495 (GRCm39)	missense	probably benign
R1499:Cfap91	UTSW	16	38,141,762 (GRCm39)	missense	probably damaging	0.96
R1693:Cfap91	UTSW	16	38,162,085 (GRCm39)	missense	probably benign
R1793:Cfap91	UTSW	16	38,141,781 (GRCm39)	missense	possibly damaging	0.77
R1854:Cfap91	UTSW	16	38,144,659 (GRCm39)	splice site	probably null
R2007:Cfap91	UTSW	16	38,118,616 (GRCm39)	missense	probably benign	0.02
R2443:Cfap91	UTSW	16	38,123,094 (GRCm39)	missense	probably damaging	1.00
R2857:Cfap91	UTSW	16	38,123,075 (GRCm39)	missense	probably damaging	1.00
R2937:Cfap91	UTSW	16	38,131,400 (GRCm39)	missense	possibly damaging	0.65
R3441:Cfap91	UTSW	16	38,154,168 (GRCm39)	missense	probably benign	0.03
R3442:Cfap91	UTSW	16	38,154,168 (GRCm39)	missense	probably benign	0.03
R4056:Cfap91	UTSW	16	38,118,576 (GRCm39)	missense	probably benign
R4057:Cfap91	UTSW	16	38,118,576 (GRCm39)	missense	probably benign
R4424:Cfap91	UTSW	16	38,140,727 (GRCm39)	missense	probably damaging	1.00
R4493:Cfap91	UTSW	16	38,162,130 (GRCm39)	missense	probably benign	0.00
R4546:Cfap91	UTSW	16	38,155,885 (GRCm39)	missense	probably benign	0.11
R5177:Cfap91	UTSW	16	38,152,683 (GRCm39)	missense	probably benign	0.00
R5496:Cfap91	UTSW	16	38,141,855 (GRCm39)	missense	probably damaging	1.00
R5868:Cfap91	UTSW	16	38,152,604 (GRCm39)	missense	probably damaging	1.00
R5944:Cfap91	UTSW	16	38,148,672 (GRCm39)	missense	probably damaging	0.97
R6165:Cfap91	UTSW	16	38,154,173 (GRCm39)	missense	possibly damaging	0.93
R6521:Cfap91	UTSW	16	38,127,121 (GRCm39)	missense	probably benign	0.06
R6804:Cfap91	UTSW	16	38,152,604 (GRCm39)	missense	probably damaging	0.97
R7086:Cfap91	UTSW	16	38,127,219 (GRCm39)	missense	possibly damaging	0.70
R7202:Cfap91	UTSW	16	38,155,959 (GRCm39)	missense	probably benign	0.00
R7271:Cfap91	UTSW	16	38,148,708 (GRCm39)	missense	probably damaging	1.00
R7325:Cfap91	UTSW	16	38,141,963 (GRCm39)	splice site	probably null
R7375:Cfap91	UTSW	16	38,155,980 (GRCm39)	missense	probably damaging	0.97
R7453:Cfap91	UTSW	16	38,141,841 (GRCm39)	missense	possibly damaging	0.51
R7604:Cfap91	UTSW	16	38,118,598 (GRCm39)	nonsense	probably null
R8040:Cfap91	UTSW	16	38,140,733 (GRCm39)	missense	possibly damaging	0.89
R8702:Cfap91	UTSW	16	38,152,674 (GRCm39)	missense	probably benign	0.00
R9012:Cfap91	UTSW	16	38,122,335 (GRCm39)	missense	probably damaging	0.98
R9164:Cfap91	UTSW	16	38,155,960 (GRCm39)	missense	possibly damaging	0.80
R9566:Cfap91	UTSW	16	38,155,996 (GRCm39)	missense	probably damaging	0.99
R9749:Cfap91	UTSW	16	38,128,487 (GRCm39)	missense	probably damaging	0.99
X0062:Cfap91	UTSW	16	38,118,461 (GRCm39)	missense	possibly damaging	0.70
X0067:Cfap91	UTSW	16	38,127,222 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACAGCGTACTTGGGACTTAGG -3'
(R):5'- ATCCCAAAATCTACTCTGTCGC -3'

Sequencing Primer
(F):5'- TACTTGGGACTTAGGGCTCCC -3'
(R):5'- TCTTCAAACTGCCCCCAGAG -3'

Posted On

2014-09-17